11 beta hydroxylase deficiency11 beta hydroxysteroid dehydrogenase type 2 deficiency17 alpha hydroxylase deficiency17 beta hydroxysteroide dehydrogenase deficiency2,8 dihydroxy-adenine urolithiasis2-hydroxyglutaricaciduria21 hydroxylase deficiency3 beta hydroxysteroid dehydrogenase deficiency3 hydroxyisobutyric aciduria3 methylcrotonic aciduria3 methylglutaconyl coa hydratase deficiency3-hydroxy 3-methyl glutaryl-coa lyase deficiency3-hydroxyacyl-coa dehydrogenase deficiency3-methyl crotonyl-coa carboxylase deficiency3-methyl glutaconic aciduria3-methylcrotonylglycinuria3c syndrome3m syndrome4 alpha hydroxyphenylpyruvate hydroxylase deficiency46 xx gonadal dysgenesis epibulbar dermoid47 XXY syndrome47 xyy syndrome48 xxxx syndrome48 xxyy syndrome49 xxxxx syndrome49 xxxxy syndrome5 alpha reductase 2 deficiency6-pyruvoyltetrahydropterin synthase deficiency7-dehydrocholesterol reductase deficiencyaagenaes syndromeaarskog like syndromeaarskog ose pande syndromeaarskog syndromeaase smith syndromeaase syndromeabcd syndromeabdallat davis farrage syndromeabdominal aortic aneurysmabdominal cystic lymphangiomaabdominal musculature absent microphthalmia joint laxityabetalipoproteinemiaablepharon macrostomia syndromeabnormal systemic veinous returnabruzzo erickson syndromeabsent corpus callosum cataract immunodeficiencyabsent hands and feetabuelo-forman-rubin syndromeacalvariaacanthocytosis choreaacanthocytosis neurologic disorderacanthosis nigricansacanthosis nigricans muscle cramps acral enlargementacatalasemiaaccessory pancreasacetyl coa alpha glucosaminide n acetyl transferase deficiencyachalasia addisonianism alacrimia syndromeachalasia alacrimia syndromeachalasia familial esophagealachalasia microcephalyacheiropodiaachondrogenesis grebe typeachondrogenesis kozlowski typeachondrogenesis type 1achondrogenesis type 1bachondrogenesis type 2achondroplasiaachondroplasia swiss type agammaglobulinemiaachromatopsia incomplete x linkedacid maltase deficiency

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acitretine antenatal infectionackerman syndromeacoustic neurinomaacquired autoimmune haemolytic anemiaacquired hypertrichosis lanuginosaacquired ichtyosisacquired progressive kinking of the hairacquired prothrombin deficiencyacquired willebrand diseaseacral dysostosis dyserythropoiesisacral renal mandibular syndromeacraniaacro cephalo synostosisacro coxo mesomelic dysplasiaacro fronto facio nasal dysostosisacrocallosal syndromeacrocephalopolydactylyacrocephalopolysyndactyly type 2acrocephalopolysyndactyly type 3acrocephalopolysyndactyly type 4acrocephalosyndactyly jackson weiss typeacrocephalosyndactyly type 1acrocephalosyndactyly type 3acrocephalosyndactyly type 5acrocephaly pulmonary stenosis mental retardationacrocraniofacial dysostosisacrodermatitis enteropathica zinc deficiency typeacrodysostosisacrodysplasia scoliosisacrofacial dysostosis ambiguous genitaliaacrofacial dysostosis atypical postaxialacrofacial dysostosis catania formacrofacial dysostosis nager typeacrofacial dysostosis preis typeacrofacial dysostosis rodriguez typeacrofacial dysostosis weyers typeacrofaciale dysostosis, palagonia typeAcrokeratoelastoidosis of Costaacromegaloid changes cutis verticis gyrata corneal leukomaacromegaloid facial appearance syndromeacromegaloid hypertrichosis syndromeacromegalyacromesomelic dwarfism campailla martinelli typeacromesomelic dysplasia brahimi bacha typeacromesomelic dysplasia campailla martinelli typeacromesomelic dysplasia hunter thompson typeacromesomelic dysplasia maroteaux typeacromesomelic syndrome pfeiffer typeacromicric dysplasiaacroosteolysis dominant typeacroosteolysis neurogenicacroosteolysis osteoporosis skull and mandible changesacropectorenal field defectacropectorovertebral dysplasiaacropigmentation of Dohiacrorenal field defect ectodermal dysplasia diabetesacrorenal syndrome recessiveacrorenoocular syndromeacth resistanceacutane embryopathyacute articular rheumatismacute eosinophilic pneumoniaacute erythroblastic leukemiaacute febrile neutrophilic dermatosisacute lymphoblastic leukemiaacute lymphoblastic leukemia congenital sporadic aniridiaacute megacaryoblastic leukemiaacute monoblastic leukemiaacute myeloblastic leukemia type 1

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acute myeloblastic leukemia type 2acute myeloblastic leukemia type 3acute myeloblastic leukemia type 4acute myeloblastic leukemia type 5acute myeloblastic leukemia type 6acute myeloblastic leukemia type 7acute myeloblastic leukemia with maturationacute myeloblastic leukemia without maturationacute myelomonocytic leukemiaacute promyelocytic leukemiaacyl coa deshydrogenase deficiencyacyl coa deshydrogenase medium chain deficiency ofacyl coa oxydase deficiencyacyl-coa dehydrogenase short chain deficiencyacyl-coa dehydrogenase very long chain deficiencyadactylia unilateral dominantadam complex familialadams nance syndromeadams oliver syndromeadducted thumb syndrome recessive formadducted thumbs dundar typeadenine phosphoribosyltransferase deficiencyadenosine deaminase deficiencyadenosine monophosphate deaminase deficiencyadenosine triphosphatase deficiency anemia due toadenylosuccinase deficiencyadenylosuccinate lyase deficiencyadolescent benign focal crisisadolescent idiopathic scoliosisadrenal adenoma familialadrenal hypoplasia congenital x linkedadrenal incidentalomaadrenal macropolyadenomatosisadrenocortical carcinomaadrenoleukodystrophy autosomal neonatal formadrenoleukodystrophy x-linkedadrenomyeloneuropathy (amn)adrenomyodystrophyadult idiopathic neutropeniaadult spinal muscular atrophyadult syndromeaec syndromeafibrinogenemia, familialafrican trypanosomiasisagammaglobulinemia alymphocytotic typeagammaglobulinemia x linkedaganglionosis total intestinalaganthia holoprosencephaly situs inversusaggressive fibromatosisaglossia adactyliaagonadism dextrocardia diaphragmatic herniaagonadism mental retardation delayed bone ageagyria pachygyria polymicrogyriaagyria pachygyria type 1aicardi goutieres syndromeaicardi syndromeakaba hayasaka syndromeakesson syndromeaksu stckhausen syndromeal awadi farag teebi syndromeal awadi teebi farag syndromeal frayh facharzt haque syndromeal gazali al talabani syndromeal gazali aziz salem syndromeal gazali donnai muller syndromeal gazali hirschsprung syndromeal gazali khidr prem chandran syndromeal gazali sabrinathan nair syndromealagille syndrome

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alanine glyoxylate aminotransferase deficiencyalar nasal cartilages coloboma of telecanthusalbers schonberg diseasealbinism deafness syndromealbinism immunodeficiencyalbinism ocularalbinism ocular late onset sensorineural deafnessalbinism oculocutaneous hermansky pudlak typealbinism yellow mutant typealbrecht schneider belmont syndromealbright diseasealbright hereditary osteodystrophyalbright like syndromealcohol antenatal infectionaldolase a deficiencyaldosterone synthase deficiencyalexander diseasealkaptonuriaallain babin demarquez syndromeallan herndon syndromeallanson pantzar mcleod syndromeallergic bronchopulmonary aspergillosisallgrove syndromealoi tomasini isaia syndromealopecia anosmia deafness hypogonadism syndromealopecia antibody deficiencyalopecia congenita keratosis palmoplantarisalopecia contractures dwarfism mental retardation syndromealopecia epilepsy oligophrenia syndrome of moynahanalopecia epilepsy pyorrhea mental subnormalityalopecia hypogonadism extrapyramidal disorderalopecia immunodeficiencyalopecia macular degeneration growth retardationalopecia mental retardation hypogonadismalopecia mental retardation syndromealopecia totalisalopecia universalisalopecia universalis onychodystrophy vitiligoalpers progressive sclerosing poliodystrophyalpha 1 antitrypsin deficiencyalpha 2 deficient collagen diseasealpha galactosidase a deficiencyalpha ketoglutarate dehydrogenase deficiencyalpha l fucosidase deficiencyalpha l iduronidase deficiencyalpha mannosidosisalpha thalassemiaalpha thalassemia mental retardation x linkedAlpha-sarcoglycanopathyalpha-thalassemia-abnormal morphogenesisalport deafness nephropathyalport syndromealport syndrome dominant typealport syndrome macrothrombocytopeniaalport syndrome recessive typealport syndrome with leukocyte inclusions and macrothrombocytopeniaalport syndrome x linkedalstrom syndromealternating hemiplegiaalveolar echinococcosisalves dos santos castello syndromealzheimer disease familialalzheimer disease type 1alzheimer disease type 2alzheimer disease type 3amaurosis congenita of leberamaurosis congenita of leber type 1amaurosis congenita of leber type 2amaurosis hypertrichosis

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ambral syndromeambras syndromeamegakaryocytic thrombocytopeniaamelia cleft lip palate hydrocephalus iris colobomaamelia facial dysmorphismamelia x linkedamelo cerebro hypohidrotique syndromeamelogenesis imperfecta local hypoplastic formamelogenesis imperfecta nephrocalcinosisamelogenesis imperfecta x linkedameloonychohypohidrotic syndromeamerican trypanosomiasisaminopterin antenatal infectionaminopterin like syndrome without aminopterinamniotic bands sequenceAmoebiasisAmoebiasis due to Entamoeba histolyticaAmoebiasis due to free-living amoebaeampola syndromeamylo-1,6-glucosidase deficiencyamyloid polyneuropathy transthyretin relatedamyloidosisamyloidosisamyloidosis of gingiva and conjunctiva mental retardationAmylopectinosisamyoplasiaamyoplasia mandibulofacial dysostosisamyotrophic lateral sclerosisamyotrophy fat tissue anomalyanaplastic large cell lymphomaanaplastic thyroid cancerandermann syndromeAndersen diseaseanderson diseaseandrogen insensitivity partialandrogen resistance syndromeanemia congenital hypoplastic blackfan diamond typeanemia sideroblastic spinocerebellar ataxiaanemia triphalangeal thumbsanencephalyanencephaly recessive typeanencephaly spina bifida x linkedaneurysm of sinus of valsalvaangel shaped phalango epiphyseal dysplasiaangelman syndromeangiofollicular lymph hyperplasiaangiokeratoma diffuseangiokeratoma mental retardation coarse faceangioma hereditary neurocutaneousangiomatosis systemic cystic seip syndromeangioneurotic edema hereditary due to C1 esterase inhibitor deficiencyangioosteohypertrophy syndromeAngiostrongyliasisAnguillulosisaniridia absent patellaaniridia ataxia renal agenesis psychomotor retardationaniridia lens luxation mental retardationaniridia mental retardation syndromeaniridia ptosis mental retardation obesity familial typeaniridia renal agenesis psychomotor retardationaniridia sporadicaniridia type 2anisakiasisankle defects short statureankyloblepharon cleft palate ectodermal defectsankyloblepharon ectodermal defects cleft lip palateankyloblepharon filiforme adnatum cleft palateankyloblepharon filiforme imperforate anusankyloglossia heterochromia clasped thumbs

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ankylosing spondylarthritisankylosing vertebral hyperostosis with tylosisankylosis of teethAnkylostomiasisannular pancreasannuloaortic ectasiaano-rectal atresiaanonychia ectrodactylyanonychia microcephalyanonychia onychodystrophyanonychia onychodystrophy brachydactyly type banophtalmia syndactyly waardenburg typeanophthalia pulmonary hypoplasiaanophthalmia cleft lip palate hypothalamic disorderanophthalmia cleft palate micrognathiaanophthalmia esophageal atresia cryptorchidismanophthalmia megalocornea cardiopathy skeletal anomaliesanophthalmia microcephaly hypogonadismanophthalmia plus syndromeanophthalmia short stature obesityanophthalmia waardenburg syndromeanophthalmosanophthalmos clinicalanophthalmos with limb anomaliesanorectal anomaliesanotiaanotia facial palsy cardiac defectansell bywaters elderking syndromeanterior horn diseaseanterior pituitary insufficiency, familialanti hla hyper immunizationanti-plasmin deficiencyantigen-peptide-transporter 2 deficiencyantihypertensive drugs antenatal infectionantinolo nieto borrego syndromeantiphospholipid syndromeantisynthetase syndromeantithrombin deficiencyantley bixler syndromeanyane yeboa syndromeaorta-pulmonary artery fistulaaortic arch anomaly peculiar facies mental retardationaortic arch interruptionaortic arches defectaortic dissection lentiginosisaortic supravalvular stenosisaortic supravalvular stenosisaortic valves stenosis of the childaortic windowapeced syndromeapert like polydactyly syndromeapert syndromeaphalangia hemivertebraeaphalangia syndactyly microcephalyaplasia cutis autosomal recessiveaplasia cutis cleft palate epidermolysisaplasia cutis congenita dominantaplasia cutis congenita epibulbar dermoidsaplasia cutis congenita intestinal lymphangiectasiaaplasia cutis congenita of limbs recessiveaplasia cutis congenita of limbs recessiveaplasia cutis congenita recessiveaplasia cutis myopiaapo a1 deficiencyapolipoproteine c2 deficiencyapparent mineralocorticoid excessapple peel syndromeapudomaarachnodactyly ataxia cataract aminoaciduria mental retardation

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arachnodactyly mental retardation dysmorphismarachnodactyly ossification abnormal mental retardationarachnoid cystarbovirosisarbovirus feverarc syndromearedyld syndromearginase deficiencyargininemiaargininosuccinase deficiencyargininosuccinate synthetase deficiencyargininosuccinicaciduriaarhinia choanal atresia microphthalmiaarnold chiari malformationarnold stckler bourne syndromearomatic l amino acid decarboxylase deficiencyarrhiniaarroyo garcia cimadevilla syndromearrythmogenic right ventricular dysplasia, familialarterial dysplasiaarterial tortuosityarterio hepatic dysplasiaarthritis short stature deafnessarthrogryposis congenital myopathic seizuresarthrogryposis due to muscular dystrophyarthrogryposis ectodermal dysplasia other anomaliesarthrogryposis epileptic seizures migrational brain disorderarthrogryposis iugr thoracic dystrophyarthrogryposis like disorderarthrogryposis like hand anomaly sensorineuralarthrogryposis multiplex congenita cns calcificationsarthrogryposis multiplex congenita distalarthrogryposis multiplex congenita distal type 1arthrogryposis multiplex congenita distal type 2arthrogryposis multiplex congenita lissencephalyarthrogryposis multiplex congenita neurogenic typearthrogryposis multiplex congenita pulmonary hypoplasiaarthrogryposis multiplex congenita whistling facearthrogryposis ophtalmoplegia retinopathyarthrogryposis renal dysfunction cholestasisarthrogryposis renal dysfunction cholestasis syndromearthrogryposis spinal muscular atrophyarthroophtalmopathy hereditary progressivearthropathy camptodactyly syndromearthropathy progressive pseudorheumatoid of childhoodarylsulfatase a deficiencyarylsulfatase a pseudodeficiencyarylsulfatase b deficiencyasbestos intoxicationasbestosisascher syndromeaspartoacylase deficiencyaspartylglucosaminidase deficiencyaspartylglycosaminuriaasped syndromeasperger syndromeaspergillosisasphyxiating thoracic dystrophy of the newbornasplenia syndromeasplenia with cardiovascular anomaliesasplenia with cystic liver kidney and pancreasassas syndromeastrocytomaasymmetric crying faciesataxia deafness optic atrophy lethalataxia deafness reardon typeataxia deafness retardation syndromeataxia diabetes goiter gonadal insufficiencyataxia hypogonadism choroidal dystrophy

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ataxia lactic acidosis 1ataxia myoclonies macular degenerationataxia ocular motor apraxiaataxia opsoclonus myoclonusataxia optic atrophy hearing lossataxia pancytopenia syndromeataxia periodic vestibulocerebellarataxia photosensitivity short statureataxia spastic congenital miosisataxia tapetoretinal degenerationataxia telangiectasiaataxia tonic upward deviation of eyesatelencephalyatelosteogenesis type 1atelosteogenesis type 2atherosclerosis epilepsy deafnessatkin flaitz patil smith syndromeatp synthetase deficiencyatransferrinemiaatresia of small intestinatresia of urethraatrial cardiomyopathy with heart blockatrial fibrillation, familialatrial myxoma, familialatrial septal defectatrial septal defect atrioventricular conductionatrial septal defect dominant formatrial tachyarrhythmia with short pr intervalatrichia mental and growth retardationatrio-ventricular and ventriculo-arterial double discordiaatrioventricular defect blepharophimosis radial defectsaughton hufnagle syndromeaughton sloan milad syndromeaughton syndromeaur syndromeaural atresia multiple congenital anomalies mental retardationauralcephalosyndactylyauricular flutterauriculoosteodysplasia beals typeausems wittebol post hennekam syndromeautismautoimmune enteropathy haemolytic anaemia polyendocrinopathyautoimmune lymphoproliferative syndromeautoimmunization anti factor 8autoimmunization anti factor VIIIcautosomic dominant cerebellar ataxiaautosomic dominant spinocerebellar ataxiaaxenfeld rieger anomaly hydrocephaly skeletal abnormalitiesaxial mesodermal dysplasia spectrumaxial osteosclerosisayazi syndromeazoospermia sinopulmonary infectionsBabesiosisbader syndromebaelz syndromebagatelle cassidy syndromebahemuka brown syndromebaker vinters syndromebalantidiasisballard syndromeballinger-wallace syndromebamboo hair syndromebamforth syndromebangstad syndromebanki syndromebannayan zonana syndromebaraitser brett piesowicz syndromebaraitser burn fixen syndromebaraitser burn fixen syndrome

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baraitser rodeck garner syndromebarakat syndromebarber say syndromebardet biedl syndromebardet biedl syndrome type 1bardet biedl syndrome type 2bardet biedl syndrome type 3bardet biedl syndrome type 4barnicoat baraitser syndromebarrett esophagusbarrow fitzsimmons syndromebart pumphrey syndromebarth syndromebartsocas papa syndromebartter syndromebartter syndrome antenatal formbartter syndrome antenatal hypercalciuric formbasal cell nevus anodontia abnormal bone mineralizationbasan syndromebasaran yilmaz syndromebasilar impression primaryBassen-Kornzweig syndromebassoe syndromebattaglia neri syndromebatten syndromebaughman syndromebazex dupre christol syndromebazopoulou kyrkanidou syndromebbb syndromebbb syndrome x linkedbd syndromebeals hecht syndromebeals syndromebean syndromebeardwell syndromebeare stevenson syndromebecker diseasebeckwith wiedemann syndromebeemer ertbruggen syndromebeemer langer syndromebehcet syndromebehr syndromebehrens baumann dust syndromebeighton goldberg hof syndromebell's palsybellini chiumello rinoldi syndromeben ari shuper mimouni syndromebenallegue lacete syndromebencze syndromebenign autosomal dominant myopathybenign chronic pemphigus familial of Hailey-Haileybenign familial infantile convulsionsbenign familial infantile epilepsybennion patterson syndromebentham driessen hanveld syndromeberadinelli syndromeberdon syndromeberger diseaseberk tabatznik syndromebernard soulier syndromebesnier-boeck-schaumann diseasebest diseasebeta galactosidase deficiencybeta glucuronidase deficiencybeta mannosidosisbeta thalassemiaBeta-sarcoglycanopathybetaketothiolase deficiencybethlem myopathy

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beveridge syndromebhaskar jagannathan syndromebianchine lewis syndromebickel fanconi glycogenosisbicuspid aortic valvebids syndromebiemond syndromebiemond syndrome type 1biemond syndrome type 2biermer diseasebifid nose dominantbifunctional enzyme deficiencybilateral renal agenesisbilateral renal agenesis dominant typebiliary malformation renal tubular insufficiencybilirubin uridinediphosphate glucuronosylyltransferase deficiencybillard toutain maheut syndromebillet bear syndromebinder syndromebindewald ulmer muller syndromebinswanger diseasebiotinidase deficiencybird headed dwarfism montreal typeBirt-Hogg-Dube syndromebixler christian gorlin syndromebjornstad syndromeBjornstadt syndromeblaichman syndromeblastogenesis defectblepharo cheilo dontic syndromeblepharo facio skeletal syndromeblepharo naso facial syndrome van maldergem typeblepharonasofacial malformation syndromeblepharophimosis epicanthus inversus and ptosisblepharophimosis nasal groove growth retardationblepharophimosis ptosis esotropia syndactyly short statureblepharophimosis ptosis syndactyly mental retardationblepharophimosis radioulnar synostosisblepharophimosis syndrome ohdo typeblepharophimosis telecanthus microstomiablepharoptosis aortic anomalyblepharoptosis cleft palate ectrodactyly dental anomaliesblepharoptosis myopia ectopia lentisblepharospasmblethen wenick hawkins syndromeblomstrand syndromebloom syndromeblount diseaseblue cone monochromatismblue rubber bleb nevusbod syndromeboeck sarcoidbone dysplasia azouz typebone dysplasia corpus callosum agenesisbone dysplasia lethal holmgren typebone dysplasia moore typebone fragility craniosynostosis proptosis hydrocephalusbone marrow failure neurologic abnormalitiesbonneau beaumont syndromebonneman meinecke reich syndromebonnemann meinecke syndromebook syndromeboomerang dysplasiabooth haworth dilling syndromebor syndromeborjeson forssman lehmann syndromebork stender schmidt syndromeborreliosisborrone di rocco crovato syndrome

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boscherini galasso manca bitti syndromebosma henkin christiansen syndromeBothriocephalosisbotulismboucher neuhauser syndromeboudhina yedes khiari syndromebourneville syndromebourneville syndrome type 1bourneville syndrome type 2bouwes bavinck weaver ellis syndromebowen conradi syndromebowen hutterite syndromebowen syndromebowing congenital short bonesbowing of long bones congenitalboylan dew greco syndromebrachioskeletogenital syndromebrachman de lange syndromebrachycephalofrontonasal dysplasiabrachycephaly deafness cataract mental retardationbrachydactylie types b et e combinedbrachydactylous dwarfism mseleni typebrachydactyly absence of distal phalangesbrachydactyly anonychiabrachydactyly clinodactylybrachydactyly deafness skeletal anomaliesbrachydactyly dwarfism mental retardationbrachydactyly elbow wrist dysplasiabrachydactyly hypertensionbrachydactyly long thumb typebrachydactyly mesomelia mental retardation heart defectsbrachydactyly mohr wriedt typebrachydactyly nystagmus cerebellar ataxiabrachydactyly preaxial hallux varusbrachydactyly scoliosis carpal fusionbrachydactyly small stature face anomaliesbrachydactyly smorgasbord typebrachydactyly symphalangism syndromebrachydactyly temtamy typebrachydactyly tibial hypoplasiabrachydactyly type a1brachydactyly type a2brachydactyly type a3brachydactyly type a4brachydactyly type a5 nail dysplasiabrachydactyly type a6brachydactyly type a7brachydactyly type bbrachydactyly type cbrachydactyly type ebrachymesomelia renal syndromebrachymesophalangy 2 and 5brachymesophalangy mesomelic short limbs osseous anomaliesbrachymesophalangy type 2brachymetapody anodontia hypotrichosis albinoidismbrachymorphism onychodysplasia dysphalangism syndromebrachyolmiabrachyolmia recessive hobaek typebrachyolmia toledo typebrachytelephalangy characteristic facies kallmann syndromebraddock carey syndromebraddock jones superneau syndromebrain cavernous angiomabranched chain ketoaciduriabranchial arch defectsbranchial arch syndrome x linkedbranchial dysplasia mental retardation inguinal herniabranchio oculo facial syndromebranchio oculo facial syndrome hing type

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branchio oto renal syndromebraun bayer syndromebreast and ovarian cancerbreast cancer familialbreast cancer type 1breast cancer type 2breast cancer type 3brittle bone diseasebrittle bone syndrome lethal typebrittle cornea syndromebrittle hair mental deficitbroad-betalipoproteinemiabrodie chole griffin syndromebronchiectasis oligospermiabronchiolitis obliterans organizing pneumoniabronchiolitis obliterans with obstructive pulmonary diseasebronchogenic cystbronchopulmonar amyloidosisbronspiegel zelnick syndromebruce winship syndromebrucellosisbruck syndromeBrugada syndromebrunner winter syndromebrunoni syndromebruton type agammaglobulinemiabruyn scheltens syndromebudd-chiari syndromebulbospinal amyotrophy X linkedbull dog syndromebull nixon syndromebullous dystrophy macular typebullous ichtyosiform erythroderma congenitabullous pemphigoidbuntinx lormans martin syndromeburkitt lymphomaburn goodship syndromeburnett schwartz berberian syndromebuschke fischer brauer syndromebuschke ollendorff syndromebustos simosa pinto cisternas syndromebuttiens fryns syndromebutyrylcholinesterase deficiencybyler diseaseBebe collodion syndromec syndromecacchi ricci diseasecach syndromecadasilcafe au lait spots syndromecaffey diseasecahmr syndromecalcinosis raynaud phenomenon sclerodactyly telangiectasiscalderon gonzalez cantu syndromecalloso genital dysplasiacallus diseasecalpainopathycalvarial hyperostosiscamera lituania cohen syndromecamera stella syndromecamfak syndromecampomelia cumming typecampomelic dysplasiacamptobrachydactylycamptocormiacamptocormismcamptodactyly fibrous tissue hyperplasia skeletal dysplasiacamptodactyly joint contractures facial skeletal defectscamptodactyly overgrowth unusual facies

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camptodactyly syndrome guadalajara type 1camptodactyly syndrome guadalajara type 2camptodactyly taurinuriacamptodactyly vertebral fusioncamptomelic dwarfismcamurati engelmann diseasecanale-smith syndromecanavan diseasecandidiasis familial chroniccantalamessa baldini ambrosi syndromecantrell haller ravitsch syndromecantrell pentalogycantu sanchez corona fragoso syndromecantu sanchez corona garcia syndromecantu sanchez corona hernandes syndromeCapillary leak syndrome with monoclonal gammopathycapos syndromecaratolo cilio pessagno syndromecarbamoylphosphate synthetase deficiencycarbohydrate deficient glycoprotein syndromecarbohydrate deficient glycoprotein syndrome type 1acarbohydrate deficient glycoprotein syndrome type 1bcarbohydrate deficient glycoprotein syndrome type 1ccarbohydrate deficient glycoprotein syndrome type 2carbohydrate deficient glycoprotein syndrome type 3carbohydrate deficient glycoprotein syndrome type 4carbon baby syndromecarcinoid tumorcardiac and laterality defectscardiac conduction defect familialcardiac diverticulumcardiac malformationcardiac valvular dysplasia x-linkedcardiofacial syndrome short limbscardiofaciocutaneous syndromecardiogenital syndromecardiomelic syndrome stratton koehler typecardiomyopathic lentiginosiscardiomyopathy cataract hip spine diseasecardiomyopathy diabetes deafnesscardiomyopathy dilated with conduction defectcardiomyopathy dilated with conduction defect type 1cardiomyopathy dilated with conduction defect type 2cardiomyopathy due to anthracyclinescardiomyopathy familial dilatedcardiomyopathy familial hypertrophiccardiomyopathy hearing loss type trna lys gene mutationcardiomyopathy hypogonadism metabolic anomaliescardiomyopathy infantile fatal x linkedcardiomyopathy spherocytosiscardioskeletal myopathy neutropeniacarey fineman ziter syndromecarnevale canun mendoza syndromecarnevale hernandez castillo syndromecarnevale krajewska fischetto syndromecarney syndromecarnitine deficiency myopathiccarnitine palmitoyl transferase 1 deficiencycarnitine palmitoyl transferase 2 deficiencycarnitine systemic deficiencycarnitine transporter deficiencycarnitine-acylcarnitine translocase deficiencycarnosinase deficiencycarnosinemiacarpal deformity migrognathia microstomiacarpenter hunter typecarpenter syndromecarpo tarsal osteochondromatosiscarpo tarsal osteolysis recessive

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carrington syndromecartilage hair hypoplasia like syndromecartilage hair hypoplasia syndromecartwright nelson fryns syndromecassia stocco dos santos syndromecastleman maladiecastro gago pombo novo syndromecat eye syndromecat rodrigues syndromecatalase deficiencycataract aberrant oral frenula growth retardationcataract alopecia sclerodactylycataract anterior polar dominantcataract ataxia deafnesscataract cardiomyopathycataract congenital autosomal dominantcataract congenital dominant non nuclearcataract congenital ichthyosiscataract congenital volkmann typecataract congenital with microphthalmiacataract deafness hypogonadismcataract hutterite typecataract hyperostosis frontalis dislocating patellacataract hypertrichosis mental retardationcataract mental retardation anal atresia urinary defectscataract mental retardation hypogonadismcataract microcornea syndromecataract microcornea x linkedcataract microphthalmia septal defectcataract skeletal anomaliescataract total congenitalcatch 22catel manzke syndromecaudal appendage deafnesscaudal duplicationcaudal dysgenesis familial typecaudal regression sequencecayler syndromecca syndromeccge syndromecdg syndromecdg syndrome type 1acdg syndrome type 1bcdg syndrome type 1ccdg syndrome type 2cdg syndrome type 3cdg syndrome type 4cdk4 linked melanomacecato de lima pinheiro syndromeceliac diseaseceliac disease epilepsy occipital calcificationscenani lenz syndactylismcennamo gangemi syndromecentral core myopathycentromeric instability immunodeficiency syndromecentrotemporal epilepsycephalopolysyndactylycephaloskeletal dysplasiaceramidase deficiencycerebellar ataxia areflexia pes cavus optic atrophy and sensorineural hearing losscerebellar ataxia dominant purecerebellar ataxia early onset with retained tendon reflexcerebellar ataxia ectodermal dysplasiacerebellar ataxia hypogonadotropic hypogonadismcerebellar ataxia infantile with progressive external ophtalmoplegiacerebellar ataxia x linkedcerebellar hypoplasiacerebellar hypoplasia endosteal sclerosis

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cerebellar hypoplasia tapetoretinal degenerationcerebelloolivary atrophycerebelloparenchymal disorder 3cerebellum agenesis hydrocephalycerebral calcification cerebellar hypoplasiacerebral calcifications opalescent teeth phosphatiuriacerebral cavernous malformationcerebral cavernous malformationscerebral gigantismcerebral gigantism jaw cystscerebral gigantism nevo typecerebral malformations hypertrichosis claw handscerebro costo mandibular syndromecerebro facio articular syndromecerebro facio thoracic dysplasiacerebro oculo dento auriculo skeletal syndromecerebro oculo genital syndromecerebro oculo skeleto renal syndromecerebro reno digital syndromecerebroarthrodigital syndromecerebrohepatorenal syndromecerebrooculofacioskeletal syndromecerebroretinal vasculopathyceroid lipofuscinose neuronalceroid lipofuscinose neuronal 1 infantileceroid lipofuscinose neuronal 2 late infantileceroid lipofuscinose neuronal 3 juvenileceroid lipofuscinose neuronal 4 adult typeceroid lipofuscinose neuronal 5 late infantile finnish variantceroid lipofuscinose neuronal 6 late infantilecervical hypertrichosis neuropathycervical hypertrichosis peripheral neuropathycervical ribs sprengel anomaly polydactylycervical vertebral fusioncervicooculoacoustic syndromecfc syndromecfc syndromechagas diseaseChanarin diseasechands syndromechang davidson carlson syndromechaotic atrial tachycardiachar douglas dungan syndromecharcot diseasecharcot marie tooth diseasecharcot marie tooth disease deafness dominant typecharcot marie tooth disease deafness mental retardationcharcot marie tooth disease deafness recessive typecharcot marie tooth disease guadalajara neuronal typecharcot marie tooth disease intermediate formcharcot marie tooth disease neuronal type acharcot marie tooth disease neuronal type bcharcot marie tooth disease neuronal type dcharcot marie tooth disease type 1acharcot marie tooth disease type 1bcharcot marie tooth disease type 1ccharcot marie tooth disease type 2acharcot marie tooth disease type 2bcharcot marie tooth disease type 2ccharcot marie tooth disease type 2dcharcot marie tooth neuropathy type 4acharcot marie tooth neuropathy x linked recessive type 2charcot marie tooth peroneal muscular atrophy, x linked type 1charcot marie tooth type 1 aplasia cutis congenitacharcot marie tooth type 4bcharcot marie tooth x linked recessive type 3charge associationcharge like syndromecharlevoix disease

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charlie m syndromechediak higashi like syndromechediak higashi syndromecheilitis glandularischemke oliver mallek syndromechen kung ho kaufman mcalister syndromecherubismcherubism gingival fibromatosis mental retardationcherubism optic atrophy short staturechiari type 1 malformationCHILD syndromechildhood ataxia with diffuse central nervous system hypomyelinationchime neuroectodermal dysplasiachitayat haj chahine syndromechitayat meunier hodgkinson syndromechitayat moore del bigio syndromechitty hall baraitser syndromechitty hall webb syndromechoanal atresia deafness cardiac defects dysmorphismcholedochal cyst hand malformationcholeracholestasis lymphedema syndromecholestasis pigmentary retinopathy cleft palatecholestasis progressive familial intrahepaticcholestasis progressive familial intrahepatic 1cholestasis progressive familial intrahepatic 2cholestasis progressive familial intrahepatic 3cholestatic jaundice renal tubular insufficiencycholesterol ester storage diseasechondrocalcinosis familiar articularchondrodysplasia calcificans metaphysealischondrodysplasia lethal greenberg rimoin typechondrodysplasia lethal neonatalchondrodysplasia lethal recessivechondrodysplasia pseudohermaphrodism syndromechondrodysplasia punctatachondrodysplasia punctata brachytelephalangicchondrodysplasia punctata conradi hunermann typechondrodysplasia punctata ocular colobomatachondrodysplasia punctata rhizomelic formchondrodysplasia punctata sheffield typechondrodysplasia punctata x linked dominantchondrodysplasia punctata x linked recessivechondrodysplasia situs inversus imperforate anus polydactylychondrodystrophia calcifians punctatachondrodystrophy advanced carpotarsal ossificationchondrodystrophy sensorineural deafnesschondroectodermal dysplasiachondromalaciachondrysplasia punctata humero metacarpal typechordomachorea acanthocytosischorea familial benignchoreoacanthocytosis amyotrophicchoreoathetosis familial paroxysmalchorioretinopathy birdshot typechorioretinopathy dominant form microcephalychoroid plexus cystchoroidal atrophy alopeciachoroideremiachoroideremia deafness obesitychoroideremia hypopituitarismchoroido cerebral calcification syndrome infantile formchrist siemens touraine syndromechristian demyer franken syndromechristian johnson angenieta syndromechristian syndromechristianson fourie syndromeChromomycosis

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chromosome 1 ringchromosome 10 ringchromosome 12 ringchromosome 14 ringchromosome 18 ringchromosome 19 ringchromosome 20 ringchromosome 21 ringchromosome 22 ringchromosome 4 ringchromosome 6 ringchromosome 7 ringchromosome 8 ringchronic autoimmune hepatitischronic berylliosischronic demyelinizing neuropathy with igm monoclonal gammapathychronic fatigue syndromechronic hiccupchronic inflammatory rheumatism juvenilechronic myeloid leukemiachronic polyradiculonevritischronic, infantile, neurological, cutaneous, articular syndromechudley lowry hoar syndromechudley rozdilsky syndromechurg-strauss syndromechylous ascitesciliary discoordination due to random ciliary orientationciliary dyskinesia bronchiectasisciliary dyskinesia due to transposition of ciliary microtubulescilliers beighton syndromecinca syndromecircumscribed cutaneous aplasia of the vertexcircumscribed disseminated keratosis jadassohn lewandowsky typecitrullinemiaClarkson diseaseclayton smith donnai syndromecleft hand absent tibiacleft limb heart malformation syndromecleft lip and or palate with mucous cysts of lower lipcleft lip and palate malrotation cardiopathycleft lip palate abnormal thumbs microcephalycleft lip palate deafness sacral lipomacleft lip palate dysmorphism kumar typecleft lip palate ectrodactylycleft lip palate facial eye heart intestinal anomaliescleft lip palate incisor and finger anoamliescleft lip palate lip pits limb deficiencycleft lip palate mental retardation corneal opacitiescleft lip palate oligodontia syndactyly pili torticleft lip palate pituitary deficiencycleft lip palate tetraphocomeliacleft lip retinopathycleft lip with or without cleft palatecleft lower lip cleft lateral canthi chorioretinal degenerationcleft palate cardiac defect ectrodactylycleft palate colobomata radial synostosis deafnesscleft palate heart disease polydactyly absent tibiaecleft palate large ears small headcleft palate lateral synechia syndromecleft palate short stature vertebral anomaliescleft palate stapes fixation oligodontiacleft palate x linkedcleft tongue syndromecleft upper lip median cutaneous polypsclefting ectropion conical teethcleido rhizomelic syndromecleidocranial dysostosiscleidocranial dysplasiacleidocranial dysplasia micrognathia absent thumbs

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cloacal exstrophyclouston syndromecloverleaf skull bone dysplasiacloverleaf skull generalised bone dysplasiacloverleaf skull micromelia thoracic dysplasiacloverleaf skull syndromecmv antenatal infectioncoach syndromecoarctation of aorta dominantcoarse face hypotonia constipationcoats diseasecocaine antenatal infectioncockayne syndromecockayne syndrome type 1cockayne syndrome type 2cockayne syndrome type 3cockayne touraine type epidermolysis bullosa simplexcodas syndromecoenzyme q cytochrome c reductase deficiency ofcoffin lowry syndromecoffin siris syndromecoffin syndromecofs syndromecogan's syndromecohen hayden syndromecohen lockood wyborney syndromecohen syndromecolavita kozlowski syndromecole carpenter syndromecoleman randall syndromecollins pope syndromecollins sakati syndromecoloboma chorioretinal cerebellar vermis aplasiacoloboma hair abnormalitycoloboma of choroid and retinacoloboma of eye lenscoloboma of iriscoloboma of lens ala nasicoloboma of maculacoloboma of macula type b brachydactylycoloboma of optic papillacoloboma porencephaly hydronephrosiscoloboma uveal with cleft lip palate and mental retardationcoloboma, ocularcolobomata unilobar lung heart defectcolobomatous microphthalmiacolobomatous microphthalmia heart disease hearing losscolon cancer familial nonpolyposiscolonic atresiacolver steer godman syndromecombarros calleja leno syndromecommon mesenterycomplement component 2 deficiencycomplement component receptor 1complete atrioventricular canalcomplex 1 mitochondrial respiratory chain deficiency ofcomplex 2 mitochondrial respiratory chain deficiency ofcomplex 3 mitochondrial respiratory chain deficiency ofcomplex 4 mitochondrial respiratory chain deficiency ofcomplex 5 mitochondrial respiratory chain deficiency ofconductive deafness malformed external earconductive deafness micrognathiacone dystrophy x linkedcone rod dystrophycone rod dystrophy amelogenesis imperfectacongenital absence of the uterus and vaginacongenital adrenal hyperplasiacongenital adrenal hyperplasia type 1congenital adrenal hyperplasia type 2

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congenital adrenal hyperplasia type 3congenital adrenal hyperplasia type 4congenital adrenal hyperplasia type 5congenital alopecia x linkedcongenital aneurysms of the great vesselscongenital benign spinal muscular atrophy dominantcongenital bronchobiliary fistulacongenital central alveolar hypoventilationcongenital centronuclear myopathycongenital craniosynostosis maternal hyperthyroidismcongenital cystic eye multiple ocular and intracranial anomaliescongenital dyserythropoietic anemiacongenital dyserythropoietic anemia type 1congenital dyserythropoietic anemia type 2congenital dyserythropoietic anemia type 3congenital erythropoiesiscongenital fiber type disproportioncongenital heart disease ptosis hypodontia craniosynostosiscongenital heart disease radio ulnar synostos mental retardationCongenital Hemidysplasia with Ichtyosiform erythroderma and Limbs Defectscongenital hypothyroidismcongenital hypotrichosis miliacongenital ichthyosis microcephalus quadriplegiacongenital ichtyosiform erythrodermacongenital intrinsic factor deficiencycongenital lobar emphysemacongenital lymphedemacongenital megalo-uretercongenital mesoblastic nephromacongenital microvillous atrophycongenital mitral malformationcongenital mitral stenosiscongenital muscular dystrophy syringomyeliacongenital nephrotic syndrome finnish typecongenital retinal telangiectasiacongenital short bowelcongenital short femurcongenital stenosis of cervical medullary canalcongenital unilateral pulmonary hypoplasiacongenital vagal hyperreflexivitycongenital wooly hairconnective tissue dysplasia spellacy typeconnexin 26 anomalyconotruncal heart malformationconradi hunermann syndromeconstrictive bronchiolitiscontinuous muscle fiber activity hereditarycontinuous spike-wave during slow sleep syndromecontractural arachnodactyly congenitalcontractures ectodermal dysplasia cleft lip palatecontractures hyperkeratosis lethalitycontractures of feet muscle atrophy oculomotor apraxiaconvulsions benign familial neonatalconvulsions benign familial neonatal dominant formcooks syndromecooley anemiacoper transport diseasecopper deficiency familial benigncormier rustin munnich syndrome decorneal anesthesia deafness mental retardationcorneal cerebellar syndromecorneal crystals myopathy neuropathycorneal dystrophy epithelial short staturecorneal dystrophy ichthyosis microcephaly mental retardationcorneal dystrophy perceptive deafnesscorneal dystrophy pigmentary anomaly malabsorptioncornelia de lange syndromecorneodermatoosseous syndromecoronal synostosis syndactyly jejunal atresia

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coronaro-cardiac fistulacoronary arteries congenital malformationcorpus callosum agenesiscorpus callosum agenesis double urinary collecting systemcorpus callosum agenesis neuronopathycorpus callosum agenesis of blepharophimosis robincorpus callosum agenesis of with chorioretinal abnormalitycorpus callosum agenesis polysyndactylycorpus callosum dysgenesis cleft spasmcorpus callosum dysgenesis hypopituitarismcorpus callosum dysgenesis x linked recessivecorrected transpositioncorsello opitz syndromecortada koussef matsumoto syndromecortes lacassie syndromecortical blindness mental retardation polydactylycortical hyperostosis syndactylycorticobasal degenerationcostello syndromecostocoracoid ligament congenitally shortcostovertebral segmentation defect mesomeliacote adamopoulos pantelakis syndromecote katsantoni syndromecousin walbraum cegarra syndromecovesdem syndromecowchock wapner kurtz syndromecowden syndromecoxoauricular syndromecramer niederdellmann syndromeCrandall syndromecrane heise syndromecranio fronto nasal dysplasia poland anomalycranio osteoarthropathycranioacrofacial syndromecraniocarpotarsal dystrophycraniocerebellocardiac dysplasiacraniodiaphyseal dysplasiacraniodigital syndrome mental retardationcranioectodermal dysplasiacraniofacial and osseous defects mental retardationcraniofacial and skeletal defectscraniofacial deafness hand syndromecraniofacial digital genital anomaliescraniofacial dysostosis arthrogryposis progeroid appearancecraniofacial dysostosis genital dental cardiac anomaliescraniofacial dyssynostosiscraniofaciocardioskeletal syndromecraniofaciocervical osteoglyphic dysplasiacraniofrontonasal dysplasiacraniofrontonasal syndrome teebi typecraniometaphyseal dysplasia dominant typecraniometaphyseal dysplasia recessive typecraniomicromelic syndromecraniostenosiscraniostenosis cataractcraniostenosis with congenital heart disease mental retardationcraniosynostosiscraniosynostosis alopecia brain defectcraniosynostosis arthrogryposis cleft palatecraniosynostosis autosomal dominantcraniosynostosis brachydactylycraniosynostosis cleft lip palate arthrogryposiscraniosynostosis contractures cleftcraniosynostosis dandy walker hydrocephaluscraniosynostosis exostoses nevus epibulbar dermoidscraniosynostosis fibular aplasiacraniosynostosis fontaine typecraniosynostosis herrmann opitz typecraniosynostosis hydrancephaly thumb aplasia

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craniosynostosis maroteaux fonfria typecraniosynostosis mental retardation clefting syndromecraniosynostosis mental retardation heart defectscraniosynostosis midfacial hypoplasia foot abnormalitiescraniosynostosis philadelphia typecraniosynostosis radial aplasia syndromecraniosynostosis radial aplasia syndromecraniosynostosis radial aplasia type imaizumicraniosynostosis synostoses hypertensive nephropathycraniosynostosis warman typecraniotelencephalic dysplasiacraniotubular syndromecrash syndromecrawfurd syndromecreatine deficiencyCreeping diseasecrest syndromecretinism athyreoticcreutzfeldt-jakob diseasecri du chat syndromecrigler najjar syndromecrisponi syndromecriss crosscriss crosscriswick schepens syndromecrohn diseasecrome syndromecronkhite canada syndromecross syndromecrossed polydactyly type 1crossed polysyndactylycrouzon craniofacial dysostosiscrouzon diseasecrow fukase syndromecryoglobulinemiacryptococcosiscryptogenic organized pneumopathycryptomicrotia brachydactyly syndrome excess fingertip archcryptophthalmos syndromecryptorchidism arachnodactyly mental retardationcryptosporidiosisculler jones syndromecurly hair ankyloblepharon nail dysplasia syndromecurrarino triadcurry hall syndromecurry hall syndromecurry jones syndromeCurtaneous larva migransCurth-Macklin ichtyosiscurtis rogers stevenson syndromecushing syndrome familialcutaneous albinism hermine phenotypecutaneous lymphomacutaneous photosensitivity colitis lethalcutaneous vascularitiscutis gyratum acanthosis nigricans craniosynostosiscutis laxacutis laxa corneal clouding mental retardationcutis laxa dominant typecutis laxa joint laxity retarded developmentcutis laxa osteoporosiscutis laxa recessive type 1cutis laxa recessive type 2cutis laxa x linkedcutis marmorata telangiectatica congenitacutis verticis gyratacutis verticis gyratacutis verticis gyrata mental deficiencycutis verticis gyrata thyroid aplasia mental retardation

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cutler bass romshe syndromeCyclosporosiscypress facial neuromusculosqueletal syndromecystathionine beta synthase deficiencycystathioninuriacystic adenomatoid malformation of the lungcystic angiomatosis of bone, diffusecystic fibrosiscystic fibrosis gastritis megaloblastic anaemiacystic hamartoma of lung and kidneycystic hygroma lethal cleft palatecystic medial necrosis of aortacysticercosiscystin transport protein defect ofcystinosiscystinuriacystinuria lysinuriacytochrome c oxidase deficiency ofcytomegalovirus antenatal infectioncytomegalovirus infection congenitalcytoplasmic body myopathyczeizel brooser syndromeczeizel losonci syndromeczeizel syndromed 2-hydroxyglutaricaciduriad ercole syndromed-glycerate dehydrogenase deficiencyd-glycerate kinase deficiencyd-glycericacidemiada silva syndromedacryocystitis osteopoikilosisdaentl townsend siegel syndromedahlberg borer newcomer syndromedaish hardman lamont syndromedandy walker facial hemangiomadandy walker macrocephalydandy walker malformationdandy walker malformation postaxial polydactylydandy walker syndrome recessive formdandy walker syndrome recessive x linkeddaneman davy mancer syndromedarier diseasedavenport donlan syndromedavid syndromedavis lafer syndromede barsy syndromede hauwere leroy adriaenssens syndromeDe la Chapelle syndromede morsier syndromede sanctis cacchione syndromede smet fabry fryns syndrome dedeaf blind hypopigmentationdeafness alopecia hypogonadismdeafness autosomal dominant nonsyndromic sensorineuraldeafness autosomal dominant nonsyndromic sensorineural dfna1 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna10 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna11 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna12 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna13 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna14 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna15 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna2 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna3 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna4 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna5 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna6 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna7 linkeddeafness autosomal dominant nonsyndromic sensorineural dfna9 linkeddeafness blindness dystonia fractures

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deafness conductive ptosis skeletal anomaliesdeafness conductive stapedial ear malformation facial palsydeafness congenital onychodystrophy recessivedeafness craniofacial syndromedeafness dominant indonesian typedeafness enamel hypoplasia nail defectsdeafness epiphyseal dysplasia short staturedeafness goiter stippled epiphysesdeafness hyperuricemia neurologic ataxiadeafness hypogonadism syndromedeafness hypospadias metacarpal and metatarsal synostosisdeafness mesenteric diverticula of small bowel neuropathydeafness mixed with perilymphatic gusher x linkeddeafness nephritis ano rectal malformationdeafness neurosensory pituitary dwarfismdeafness nonsyndromic connexin 26 linkeddeafness oligodontia syndromedeafness onychodystrophy dominant formdeafness optic atrophy syndromedeafness peripheral neuropathy arterial diseasedeafness progressive cataract autosomal dominantdeafness progressive high tone neuraldeafness skeletal dysplasia lip granulomadeafness symphalangismdeafness vitiligo achalasiadeafness white hair contractures papillomasdeafness x linkeddeafness x linked (dfn1)deafness x linked (dfn2)deafness x linked (dfn3)deafness x linked (dfn4)deafness x linked (dfn6)deafness-tubular acidosis-anemiadeal barratt dillon syndromedeciduous skindefect in synthesis of adenosylcobalamindefective apolipoprotein-b100defective expression of hla class 2Degos 'en cocarde' erythrokeratodermaDegos's malignant atrophic papulosisdehydratase deficiencydehydrated hereditary stomatocytosisdejerine klumpke paralysisdelayed membranous cranial ossificationdelayed speech facial asymetry strabismus ear lobe creasesdeleted in azoospermiadeletion 10pdeletion 10pterdeletion 10qdeletion 11pdeletion 11p11 p12deletion 11p13deletion 11q partielledeletion 12p12 p11deletion 12p13deletion 13qdeletion 13q14deletion 13q22deletion 13q32deletion 14q partial duplication 14p partialdeletion 14q11deletion 14q31deletion 14qterdeletion 15q1deletion 15q25deletion 17q23 q24deletion 18pdeletion 18qdeletion 18q23

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deletion 1pdeletion 1p22 p13deletion 1p31 p22deletion 1p32deletion 1p34 p32deletion 1p36deletion 1q21 q25deletion 1q25 q32deletion 1q32 q42deletion 1q4deletion 20pdeletion 21q22deletion 2p22deletion 2pter p24deletion 2qdeletion 2q duplication 1pdeletion 2q24deletion 3pdeletion 3p14 p11deletion 3p25deletion 3q13deletion 3q21 23deletion 3q27deletion 4pdeletion 4p14 p16deletion 4qdeletion 4q32deletion 5pdeletion 5q35deletion 6p23deletion 6qdeletion 6q1deletion 6q13 q15deletion 6q16 q21deletion 6q2deletion 7deletion 7q2deletion 7q21deletion 7q3deletion 8pdeletion 8p23 1deletion 8qdeletion 8q12 21deletion 8q21 q22deletion 9pdeletion xp22 pterdeletion xq28delleman oorthuys syndromedelta 1 pyrroline 5 carboxylate dehydrogenase deficiencyDelta-sarcoglycanopathydementia hereditary multi infarct typedementia progressive lipomembranous polycystaDemodicidosisdenguedennis cohen syndromedennis fairhurst moore syndromedent diseasedental aberrations steroid dehydrogenase deficiencydentatrorubral pallidoluysian atrophydentin dysplasia sclerotic bonesdenys drash syndromeder kaloustian jarudi khoury syndromeder kaloustian mcintosh silver syndromedermatitis herpetiformisdermatocardioskeletal syndrome boronne typedermatoleukodystrophydermatomyositisdermatoosteolysis kirghizian typedermochondrocorneal dystrophy of Francois

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dermoodontodysplasiadermopathy restritive lethaldesbuquois grenier michel syndromedesbuquois syndromedesmin related myopathydesmoid diseasedevelopmental delay hypotonia extremities hypertrophydevelopmental dysphasia familialdevriendt legius fryns syndromedevriendt vandenberghe fryns syndromedexamethasone sensitive hypertensiondextrocardiadextrocardia bronchiectasis sinusitisdextrocardia microphthalmia cleft palate mental retardationdiabete insipide nephrogenique dominant typediabetes epiphyseal dysplasiadiabetes hypogonadism deafness mental retardationdiabetes insipidus nephrogenicdiabetes insipidus nephrogenic recessive typediabetes insipidus nephrogenic type 1diabetes insipidus nephrogenic type 2diabetes insipidus nephrogenic type 3diabetes insipidus nephrogenic x linkeddiabetes mellitus and insipidus optic atrophydiabetes persistent mullerian ductsdiabetic embryopathydiaphragmatic agenesiadiaphragmatic agenesis radial aplasia omphalocelediaphragmatic defect limb deficiency skull defectdiaphragmatic hernia abnormal face limbdiaphragmatic hernia congenitaldiaphragmatic hernia exomphalos corpus callosum agenesisdiaphragmatic hernia upper limb defectsdiaphyseal dysplasi anaemiadiarrhea chronic with villous atrophydiarrhea polyendocrinopathy infections x linkeddiastematomyeliadiastrophic dwarfismdiastrophic dysplasiadibasicaminoaciduria 2dibasicaminoaciduria type 1dicarboxylicaminoaciduriadidmoad syndromedie smulders droog van dijk syndrome dedie smulders vles fryns syndromediencephalic syndromediethylstilbestrol antenatal infectiondiffuse neonatal haemangiomatosisdiffuse palmoplantar keratoderma bothnian typedigeorge syndromedigestive duplicationdigitorenocerebral syndromedigitotalar dysmorphismdihydropteridine reductase deficiencydihydropyrimidine dehydrogenase deficiencydincsoy salih patel syndromedinno shearer weisskopf syndromediomedi bernardi placidi syndromedionisi vici sabetta gambarara syndromeDiphalliadiphallus rachischisis imperforate anusdiphosphoglycerate mutase deficiency of erythrocytediphtheriadiplegia congenital facialdiprosopiadiscoid lupusdislocation of the hip dysmorphismdisomy 1q12 q21disomy 9q21

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disorder in the hormonal synthesis with or without goiterdisorganization syndromedissecting cellulitis of the scalpdissecting cellulitis of the scalpdistal arthrogryposis moore weaver typedistal myopathydistal myopathy Markesbery-Griggs typedistal myopathy Nonaka typedistal myopathy welander type, swedish typedistal myopathy with vocal cord weaknessdistal primary familial acidosisdistal primary familial acidosis autosomal dominantdistal primary familial acidosis autosomal recessivedistal spinal muscular atrophy vocal cord paralysisdistichiasis heart congenital anomaliesdistomatosisdk phocomelia syndromedobrow syndromedominant cleft palatedominant ichtyosis vulgarisdominant zonular cataractdonnai barrow syndromedonohue syndromedoor syndromedopa responsive dystoniaDopamine beta-hydroxylase deficiencydouble cortexdouble discordiadouble fingernail of fifth fingerdouble outlet left ventriculedouble outlet right ventriculedouble uterus-hemivagina-renal agenesisdouble ydrachtman weinblatt sitarz syndromedracunculiasisdrash syndromeduane anomaly mental retardationduane syndromedubin johnson syndromedubowitz syndromeduhring brocq diseaseduker weiss siber syndromeduodenal atresiaduodenal atresia tetralogy of fallotduplication 1 mosaicismduplication 10pduplication 10pter p13duplication 10q partialduplication 11qduplication 11q23duplication 12 mosaicismduplication 12pduplication 12qduplication 13duplication 13pduplication 13qduplication 14 mosaicismduplication 14q partial deletion 14p partialduplication 14qproxduplication 14qterduplication 15 mosaicismduplication 15qduplication 16 mosaicismduplication 16pduplication 16qduplication 17 mosaicismduplication 17pduplication 17p11 2duplication 18

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duplication 18 mosaicismduplication 18pduplication 18qduplication 19qduplication 1p21 p32duplication 1q12 q21duplication 1q32 qterduplication 1q42 11 q42 12duplication 1q42 qterduplication 2 mosaicismduplication 20 mosaicismduplication 20pduplication 22duplication 22q11 q13duplication 2pduplication 2p13 p21duplication 2pter p24duplication 2qduplication 2q37duplication 3 mosaicismduplication 3pduplication 3p25duplication 3qduplication 3q13 2 q25duplication 4pduplication 4qduplication 4q21duplication 4q25 qterduplication 5pduplication 5pter p13 3duplication 5qduplication 6pduplication 6qduplication 7 mosaicismduplication 7pduplication 7p13 p12 2duplication 7qduplication 8duplication 8pduplication 8qduplication 9 mosaicismduplication 9p partialduplication 9q21duplication 9q32duplication of leg mirror footduplication of the thumb unilateral biphalangealduplication of urethraduplication xp3duplication xpter xq13duplication xqduplication xq13 1 q21 1duplication xq25dupont sellier chochillon syndromedwarfism bluish scleraedwarfism deafness retinitis pigmentosadwarfism familial synovial chondromatosisdwarfism lethal type advanced bone agedwarfism mental retardation eye abnormalitydwarfism seckel typedwarfism short limb absent fibulas very short digitsdwarfism stiff joint ocular abnormalitiesdwarfism syndesmodysplasicdwarfism tall vertebraedwarfism thin bones multiple fracturesdyggve melchior clausen diseasedykes markes harper syndromeDyschondroplasiadyschondrosteosisdyschondrosteosis nephritis

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dyschromatosis symmetrica hereditariadyschromatosis universalisdysequilibrium syndromeDysferlinopathydysfibrinogenemia, familialdysgerminomadysharmonic skeletal maturation muscular fibre disproportiondyskeratosis congenita of zinsser cole engmandysmorphism abnormal vocalization mental retardationdysmorphism cleft palate loose skindysmorphism corpus callosum agenesis colobomasdysmorphism multiple structural anomaliesdysosteosclerosisdysostosis acrofacial postaxialdysostosis peripheraldysostosis stanescu typedysphasic dementia hereditarydysplasia epiphysealis hemimelicadysplasia olfactogenitalis of de morsierdysplastic cortical hyperostosisdysplastic nevusdysproconvertinemiadysprothrombinemiadysraphism cleft lip palate limb reduction defectsdyssegmental dysplasia glaucomadyssegmental dysplasia silverman handmaker typedystonia musculorum deformansdystonia musculorum deformans type 1dystonia musculorum deformans type 2dystonia progressive with diurnal variationdystrophic epidermolysis bullosa inversaDystrophinopathyear patella short stature syndromeearlobes thickened conductive deafness from incudoebola virus diseaseebstein anomalyecp syndromeectodermal dysplasia absent dermatoglyphicsectodermal dysplasia adrenal cystectodermal dysplasia alopecia preaxial polydactylyectodermal dysplasia anhidroticectodermal dysplasia arthrogryposis diabetes mellitusectodermal dysplasia bartalos typeectodermal dysplasia berlin typeectodermal dysplasia blindnessectodermal dysplasia cataracts kyphoscoliosisectodermal dysplasia ectrodactyly macular dystrophyectodermal dysplasia hydroticectodermal dysplasia hypohidrotic autosomal dominantectodermal dysplasia hypohidrotic autosomal recessiveectodermal dysplasia hypohidrotic hypothyroidism ciliary dyskinectodermal dysplasia margarita typeectodermal dysplasia mental retardation cns malformationectodermal dysplasia mental retardation syndactylyectodermal dysplasia neurosensory deafnessectodermal dysplasia osteosclerosisectodermal dysplasia tricho odonto onychial typeectodermic dysplasia anhidrotic cleft lipectopia lentis chorioretinal dystrophy myopiaectopia lentis isolatedectopic coarctationectopic ossification familial typeectrodactyly cardiopathy dysmorphismectrodactyly cleft palate syndromeectrodactyly diaphragmatic hernia corpus callosum agenesisectrodactyly dominant formectrodactyly ectodermal dysplasia cleft lip palateectrodactyly ectrodermal dysplasiaectrodactyly polydactyly

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ectrodactyly recessive formectrodactyly spina bifida cardiopathyectropion inferior cleft lip and or palateeczema thrombocytopenia immunodeficiency syndromeedinburgh malformation syndromeedwards patton dilly syndromeeec syndromeeec syndrome without cleft lift palateeem syndromeehlers danlos syndrome classic typeehlers danlos syndrome hypermobile typeehlers danlos syndrome type 1ehlers danlos syndrome type 2ehlers danlos syndrome type 3ehlers danlos syndrome type 4 autosomal dominantehlers danlos syndrome type 6ehlers danlos syndrome type 7aehlers danlos syndrome type 7behlers danlos syndrome type 7cehlers danlos syndrome vascular typeehlers-danlos syndrome arthrochalasic typeehlers-danlos syndrome dermatosparaxis typeehlers-danlos syndrome kyphoscoliotic typeehrlichiosiseisenmenger complexelejalde syndromeelliott ludman teebi syndromeelliptocytosisellis van creveld syndromeellis yale winter syndromeemery dreifuss muscular dystrophy dominant typeemery dreifuss muscular dystrophy X linkedemery nelson syndromeemphysema-penoscrotal web-deafness-mental retardationenamel hypoplasia cataract hydrocephalyenamel renal syndromeencephalo cranio cutaneous lipomatosisencephalocele anteriorencephalocele frontalencephalopathy basal ganglia calcificationencephalopathy intracerebral calcification retinal degenerationencephalopathy progressive optic atrophyencephalopathy subacute spongiform gerstmann-straussler typeencephalophathy recurrent of childhoodEnchondromatosisenchondromatosis dwarfism deafnessendodermal sinus tumorendomyocardial fibroelastosisendosteal hyperostosis worth typeeng strom syndromeengelhard yatziv syndromeenolase deficiencyenolase type 1deficiencyenolase type 2 deficiencyenolase type 3 deficiencyenolase type 4 deficiencyenterovirus antenatal infectionenvenomization by bothrops lanceolatusenvenomization by the martinique lancehead vipereosinophilic cellulitiseosinophilic gastroenteritiseosinophilic granulomaeosinophilic idiopathic chronic pneumopathyependymomaepidemic hemorragic feverepidermal nevus vitamin d resistant ricketsepidermolysa bullosa simplex and limb girdle muscular dystrophyepidermolysis bullosa dermolyticepidermolysis bullosa dystrophica bart type

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epidermolysis bullosa dystrophica dominant typeepidermolysis bullosa dystrophica hallopeau siemensepidermolysis bullosa generalized atrophic benignepidermolysis bullosa herpetiformis Dowling-Meara typeepidermolysis bullosa intraepidermicepidermolysis bullosa junctionalepidermolysis bullosa junctional with pyloric atresiaepidermolysis bullosa of hands and feetepidermolysis bullosa pretibialepidermolysis bullosa simplex anodontia hair nail disordersepidermolysis bullosa simplex koebner typeepidermolysis bullosa simplex ogna typeepidermolytic hyperkeratosisepidermolytic palmoplantar keratoderma vorner typeepilepsy benign neonatalepilepsy benign neonatal dominant formepilepsy benign neonatal recessive formepilepsy demantia amelogenesis imperfectaepilepsy juvenile absenceepilepsy mental deterioration finnish typeepilepsy microcephaly skeletal dysplasiaepilepsy occipital calcificationsepilepsy partial familialepilepsy progressive myoclonic type 1epilepsy progressive myoclonic type 2epilepsy telangiectasiaepilepsy with myoclono-astatic crisisepilepsy, nocturnal frontal lobe typeepimetaphyseal dysplasia cataractepimetaphyseal skeletal dysplasiaepiphyseal dysplasia dysmorphism camptodactylyepiphyseal dysplasia hearing loss dysmorphismepiphyseal dysplasia microcephaly nystagmusepiphyseal dysplasia multipleepiphyseal dysplasia multiple dominant typeepiphyseal dysplasia multiple early onest diabetes mellitusepiphyseal dysplasia multiple myopia conductive deafnessepiphyseal stippling syndrome osteoclastic hyperplasiaepstein barr virus mononucleosisepstein syndromeerdheim diseaseeronen somer gustafsson syndromeerosive pustular dermatosis of the scalperythermalgiaerythroderma desquamativa of leinererythroderma lethal congenitalerythrokeratodermia ataxiaerythrokeratodermia variabilis mendes da costa typeescher hirt syndromeescobar syndromeesophageal atresia coloboma talipesesthesioneuroblastomaethylmalonic aciduriaeuhidrotic ectodermal dysplasiaeunuchoidism familialevans syndromeewing sarcomaexencephalyexner syndromeexomphalos macroglossia gigantism syndromeexostoses anetodermia brachydactyly type eexostoses multipleexostoses multiple type 1exostoses multiple type 2exostoses multiple type 3exstrophy of the bladder-epispadiasexstrophy of the bladder-epispadias complexexsudative retinopathy familialexsudative retinopathy familial autosomal dominant

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exsudative retinopathy familial autosomal recessiveexsudative retinopathy familial x linked recessiveextensor tendons of finger anomaliesextrahepatic biliary atresiaextrasystoles short stature hyperpigmentation microcephalyeye defects arachnodactyly cardiopathyeyebrows and eyelashes absence mental retardationeyebrows duplication syndactylyeyelashes long mental retardationEymerynopathyfabry diseasefaces syndromefacial asymetry temporal seizuresfacial cleft microtia asterniafacial clefting corpus callosum agenesisfacial dysmorphism macrocephaly myopia dandy walkerfacial dysmorphism shawl scrotum joint laxity syndromefacial ectodermal dysplasiafacial paresis partial unilateralfacies unusual arthrogryposis advanced skeletal maturationfacio digito genital syndrome recessive formfacio skeletal genital syndrome rippberger typefacio thoraco genital syndromefaciocardiomelic dysplasia lethalfaciocardiorenal syndromefaciodigitogenital syndromefaciooculoacousticorenal syndromefacioscapulohumeral muscular dystrophyfaciothoracoskeletal syndromefactor 10 deficiencyfactor 11 deficiencyfactor 12 deficiencyfactor 13 deficiencyfactor 2 deficiencyfactor 5 deficiencyfactor 7 deficiencyfactor 8 deficiencyfactor 9 deficiencyfahr syndromefallot complex mental growth retardationfamilal cholemiafamilial amniotic bandsfamilial amyloid polyneuropathyfamilial aortic dissectionfamilial band heterotopiafamilial benign hypercalcemiafamilial benign hypercalcemia type 1familial benign hypercalcemia type 2familial benign hypercalcemia type 3familial combined hyperlipidemiafamilial conotruncal cardiopathyfamilial dysautonomiafamilial glucocorticoid deficiencyfamilial hypertensionfamilial hypopituitarismfamilial intestinal polyatresia syndromefamilial nasal aciliafamilial non-immune hyperthyroidismfamilial opposable triphalangeal thumbs duplication of thefamilial partial epilepsy with variable focusfamilial porencephalyfamilial supernumerary nipplesfamilial symmetric lipomatosisfamilial temporal epilepsyfamilial thyroglossal duct cystfamilial variable immunodeficiencyfamilial veinous malformationsfamilial ventricular tachycardiafamilial visceral myopathy

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famililal adenomatous polyposisfanconi anemiafanconi anemia type 1fanconi anemia type 2fanconi anemia type 3fanconi bickel syndromefanconi ichthyosis dysmorphismfanconi like syndromefanconi pancytopeniafanconi pancytopenia type 1fanconi pancytopenia type 2fanconi pancytopenia type 3fanconi syndrome renal with nephrocalcinosis and renal stonesfara chlupackova syndromefarber lipogranulomatosisfas deficiencyfaulk epstein jones syndromefaye petersen ward carey syndromefechtner syndromefeigenbaum bergeron richardson syndromefeigenbaum bergeron syndromefeingold syndromefeingold trainer syndromefemale pseudohermaphrodismfemale pseudohermaphrodism genuardi typefemoral facial syndromefemur bifid monodactylous ectrodactylyfemur fibula ulna syndromefenton wilkinson toselano syndromeferlini ragno calzolari syndromefernhoff blackston oakley syndromeferrocalcinosis cerebro vascularfetal acitretin syndromefetal akinesia sequencefetal akinesia syndrome x linkedfetal alcohol syndromefetal aminopterin syndromefetal and neonatal alloimmune thrombocytopeniafetal antihypertensive drugs syndromefetal brain disruption sequencefetal cocaine syndromefetal cytomegalovirus syndromefetal diethylstilbestrol syndromefetal edemafetal enterovirus syndromefetal face syndromefetal hydantoin syndromefetal indomethacin syndromefetal iodine syndromefetal left ventricular aneurysmfetal methimazole syndromefetal methyl mercury syndromefetal minoxidil syndromefetal parainfluenza virus type 3 syndromefetal parvovirus syndromefetal phenothiazine syndromefetal prostaglandin syndromefetal rubella syndromefetal thalidomide syndromefetal trimethadione syndromefetal valproic syndromefetal varicella syndromefetal warfarin syndromefg syndromefibrinogen deficiencyfibrochondrogenesisfibrodysplasia ossificans progressivafibrofolliculomas with trichodiscomas and acrochordonsfibromatosis gingival hepatosplenomegaly other anomalies

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fibromatosis gingival hypertrichosisfibromatosis gingival progressive deafnessfibromatosis juvenile hyalinefibromatosis multiple non ossifyingfibromuscular dysplasia of arteriesfibrosarcomafibrous dysplasia of bonefibula aplasia complex brachydactylyfibula ulna duplication tibia radius absencefibular aplasia ectrodactylyfibular hypoplasia femoral bowing oligodactylyfibular hypoplasia scapulo pelvic dysplasia absent 5th fingersfibulo ulnar hypoplasia renal anomaliesfiessinger-leroy-reiter syndromefilariasisfilippi syndromefine lubinsky syndromefingerprints absence syndactyly miliafingers absencefinnish congenital nephrosisfinnish type amyloidosisfinucane kurtz scott syndromefish-eye diseasefistulous vegetative verrucous hydradenomafitzsimmons guilbert syndromefitzsimmons mclachlan gilbert syndromefitzsimmons walson mellor syndromeflat face microstomia ear anomalyfloating harbor syndromeflotch syndromeflynn aird syndromefocal alopecia congenital megalencephalyfocal dermal hypoplasiafocal dystoniafoix chavany marie syndromefollicular atrophoderma basal cell carcinomafollicular hamartoma alopecia cystic fibrosisfollicular ichtyosisfontaine farriaux blanckaert syndromefopforney robinson pascoe syndromefountain syndromefoveal hypoplasia presenile cataractfowler christmas chapele syndromefra x syndromefragile x syndromefragile x syndrome type 1fragile x syndrome type 2fragile x syndrome type 3fragoso cid garcia hernandez syndromefranceschetti klein syndromefrancheschini vardeu guala syndromefrancois dyscephalic syndromefranek bocker kahlen syndromefraser jequier chen syndromefraser like syndromefraser syndromefrasier syndromefraxa syndromefraxe syndromefraxf syndromefree sialic acid storage diseasefreeman sheldon syndromefreiberg's diseasefreire maia odontotrichomelic syndromefreire maia pinheiro opitz syndromefrenkel russe syndromefrias syndromefried goldberg mundel syndrome

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friedel heid grosshans syndromefriedman goodman syndromefriedreich ataxiafriedreich ataxia congenital glaucomafronto nasal malformation cloacal exstrophyfrontofacionasal dysostosisfrontofacionasal dysplasia type algazalifrontometaphyseal dysplasiafrontonasal dysplasiafrontonasal dysplasia acromelicfrontonasal dysplasia klippel feil syndromefrontonasal dysplasia phocomelic upper limbsfrontotemporal lobe dementiafroster huch syndromefroster iskenius waterson syndromefructose intolerancefructose-1,6-biphosphatase deficiencyfructose-1-phosphate aldolase hereditary deficiencyfructosemia hereditaryfructosuriafrydman cohen ashenazi syndromefrydman cohen karmon syndromefryer syndromefryns dereymacker haegeman syndromefryns fabry remans syndromefryns hofkens fabry syndromefryns smeets thiry syndromefryns syndromefucosidosisfuhrmann rieger de sousa syndromefukuda miyanomae nakata syndromefumarase deficiencyfumaric aciduriafumarylacetoacetase deficiencyfunctioning pancreatic endocrine tumorfuqua berkovitz syndromefurlong kurczynski hennessy syndromefurukawa takagi nakao syndromeFurunculous myiasisfused mandibular incisivesg syndromeg6pd deficiencygaba transaminase deficiencygalactocerebrosidase deficiencygalactokinase deficiencygalactosamine 6 sulfatase deficiencygalactose-1-phosphate uridyltransferase deficiencygalactosemiagalactosialidosisgalloway syndromegamborg nielsen syndromegame friedman paradice syndromegamma aminobutyric acid transaminase deficiencygamma-cystathionase deficiencyGamma-sarcoglycanopathygamstorp episodic aynamygangliosidosis gm1gangliosidosis gm1 type 1gangliosidosis gm1 type 2gangliosidosis gm1 type 3gapo syndromegarcia torres guarner syndromegardner morrisson abbot syndromegardner silengo wachtel syndromegardner syndromegarret tripp syndromegastrinomagastritis, familial giant hypertrophicgastro-enteropancreatic neuroendocrine tumor

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gastrocutaneous syndromegastroschisisgaucher diseasegaucher disease type 1gaucher disease type 2gaucher disease type 3gaucher ichthyosis restrictive dermopathygaucher like diseasegay feinmesser cohen syndromegeen sandford davison syndromegeleophysic dwarfismgelineau diseasegemignani syndrome degemss syndromegeneralized resistance to thyroid hormonegenes syndromegenetic reflex epilepsygenital anomaly cardiomyopathygenitopalatocardiac syndromegerhardt syndromegerman syndromegeroderma osteodysplasticagershinibaruch leibo syndromegerstmann-straussler-scheinker syndromeghosal syndromeghose sachdev kumar syndromegiant cell arteritisgiant pigmented hairy nevusgiant platelet syndromegigantism advanced bone age hoarse crygigantism partial nevi hemihypertrophy macrocephalygilbert syndromegilles de la tourette diseasegillespie syndromegingival fibromatosis dominantgingival fibromatosis facial dysmorphismgingival hypertrophy corneal dystrophygirate atrophy of choroid and retinagitelman syndromeglanzmann thrombastheniaglass chapman hockley syndrome deglastre cochat bouvier syndromeglaucoma (type 1c)glaucoma congenitalglaucoma ecopia microspherophakia stiff joints short statureglaucoma hereditaryglaucoma hereditary adult (type 1a)glaucoma hereditary juvenile (type 1b)glaucoma iridogoniodysgenesiaglaucoma primary infantile (type 3a)glaucoma primary infantile (type 3b)glaucoma sleep apneaglioblastomaglomerulonephritis sparse hair telangiectasesgloomy face syndromeglossopalatine ankylosis cataracts digital anomaliesglossopalatine ankylosis micrognathia ear anomaliesglucagonomaglucocerebrosidase deficiencyglucocerebrosidase deficiency type 1glucocerebrosidase deficiency type 2glucocerebrosidase deficiency type 3glucocorticoid resistanceglucocorticoid sensitive hypertensionglucose-6-phosphatase deficiencyglucose-6-phosphate translocase deficiencyglucose-6-phosphate-dehydrogenase deficiencyglucosephosphate isomerase deficiencyglucosidase acid 1,4 alpha deficiency

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glut2 deficiencyglutamate decarboxylase deficiencyglutamate-aspartate transport defectglutaricacidemiaglutaricacidemia type 1glutaricacidemia type 2aglutaricacidemia type 2bglutaricacidemia type 2cglutaricaciduriaglutaricaciduria type 1glutaricaciduria type 2aglutaricaciduria type 2bglutaricaciduria type 2cglutaryl coa dehydrogenase deficiencyglutathione synthetase deficiencygluten intoleranceglyceraldehyde-3-phosphate dehydrogenase deficiencyglycerol kinase deficiencyglycine synthase deficiencyglycinemia ketoticglycinemia ketotic type 1glycinemia ketotic type 2glycogen storage disease type 1glycogen storage disease type 1aglycogen storage disease type 1bglycogen storage disease type 1cglycogen storage disease type 1dglycogen storage disease type 2glycogen storage disease type 3glycogen storage disease type 4glycogen storage disease type 5glycogen storage disease type 6 due to phosphorylase deficiencyglycogen storage disease type 6 due to phosphorylase kinase deficiencyglycogen storage disease type 7glycogen storage disease type 9glycogenose type 0gm2 gangliosidosis (0 variant)gm2 gangliosidosis (b, b1,ab variant)gms syndromegoiter deafness syndromegolabi rosen syndromegoldberg bull syndromegoldberg syndromegoldblatt behari syndromegoldblatt carman sprague syndromegoldblatt viljoen syndromegoldblatt wallis syndromegoldblatt wallis zieff syndromegoldenhar syndromegoldskag cooks hertz syndromegoldstein hutt syndromegollop coates syndromegollop syndromegollop wolfgang complexgoltz syndromegombo syndromegonadal dysgenesis mixedgonadal dysgenesis xx typegonadal dysgenesis xy female typegonadal dysgenesis xy type associated anomaliesgonadotropin deficiency familialgonadotropin independant familial sexual precocitygoniodysgenesis mental retardation short staturegonococcal conjonctivitisgonodal dysgenesis xx type deafnessgonzales del angel syndromegoodman camptodactylygoodman syndrome degoodpasture pneumorenal syndrome

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goodpasture syndromegordon hyperkaliemia-hypertension syndromegordon syndromeGorham-Stout diseasegorlin bushkell jensen syndromegorlin chaudry moss syndrome degorlin goltz syndromegorlin syndromegorlin syndromegougerot sjogren syndromegraham boyle troxell syndromegrand kaine fulling syndromegrant syndromegranulomatous allergic angiitisgranulomatous disease chronicgray platelet syndromegreat vessels transpositiongrebe chondrodysplasiagreig syndromegriscelli diseasegrix blankenship peterson syndromegroll hirschowitz syndromegrosse syndromegrowth deficiency brachydactyly unusual faciesgrowth mental deficiency syndrome of myhregrowth retardation alopecia pseudoanodontia optic atrophygrowth retardation hydrocephaly lung hypoplasiagrowth retardation mental retardation phalangeal hypoplasiagrubben de cock borghgraef syndromegtp cyclohydrolase deficiencyguanidinoacetate methyltransferase deficiencyguibaud vainsel syndromeguillain barre syndromeguizar vasquez luengas syndromeguizar vasquez sanchez manzano syndromegunal seber basaran syndromegupta patton syndromegurrieri sammito bellussi syndromegusher syndromehaas chir robinson syndromehaemorragic proctocolitishagemann factor deficiencyhagemoser weinstein bresnick syndromehair defect photosensitivity mental retardationhairy throat syndromehajdu cheney syndromehal berg rudolph syndromehalal setton wang syndromehalal syndromehall riggs mental retardation syndromehallermam streiff like syndromehallermann streiff francois syndromehallervorden spatz diseasehallux varus and preaxial polysyndactylyhamanishi ueba tsujihamann zanki schimrigk syndromehamano tsukamoto syndromehamartoma sebaceus of jadassohnhand and foot deformity flat facieshand foot uterus syndromehanot syndromehans shuller christian diseasehantavirosishantavirus feverhapnes boman skeie syndromehard skin syndrome parana typeHARD syndromeharding ataxiaharrod doman keele syndrome

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harrod syndromehartnup syndromehartsfield bixler demyer syndromehashimoto pritzker syndromehashimoto strumahaspeslagh fryns muelenaere syndromehawkinsinuriahay wells syndrome dominant formhay wells syndrome recessive typehearing loss insensitivity to aldosteroneheart block progressive familialheart defect round face congenital retarded developmentheart defect tongue hamartoma polysyndactylyheart defects limb shorteningheart hand syndrome spanish typeheart hand syndrome type 2heart hypertrophy hereditaryheart situs anomalyheart tumor of the adultheart tumor of the childhec syndromehecht beals syndromehecht scott syndromeheckenlively syndromeheide syndromehelmerhorst heaton crossen syndromehemangioma-thrombocytopenia syndromehemangiomas cavernous of face supraumbilical midline raphehemangiopericytomahemeralopia congenital essentialhemeralopia familialhemi 3 syndromehemifacial atrophy agenesis of the caudate nucleushemifacial atrophy progressivehemifacial hyperplasia strabismushemifacial microsomiahemifacial microsomia macrodactylyhemihypertrophyhemihypertrophy intestinal web corneal opacityhemimegalencephalyhemiplegic migraine familialhemochromatosis familialhemoglobin c diseasehemoglobin e diseasehemolytic anemia lethal genital anomalieshemolytic uremic syndromehemophiliahemophilia ahemophilia bhemorragic fever with renal syndromehemorrhagiparous thrombocytic dystrophyhennekam beemer syndromehennekam koss de geest syndromehennekam syndromehennekam van der horst syndromehenoch-schoenlein purpuraheparane sulfamidase deficiencyheparin-induced thrombopeniahepatic cystic hamartomahepatic fibrosis renal cysts mental retardationhepatic venoocclusive diseasehepatoblastomahepatolenticular degenerationhepatorenal tyrosinemiahereditary coproporphyriahereditary methemoglobinemia recessiveHereditary myopathy with intranuclear filamentous inclusionshereditary nodular heterotopiahereditary primary fanconi disease

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hereditary resistance to anti vitamin Khereditary sensory and autonomic neuropathy 3hereditary xerocytosisheredopathia atactica polyneuritiformisherlitz pearson epidermolysis bullosa junctionalhernandez aguire negrete syndromehernandez fragoso syndromeherpes virus antenatal infectionherpetic embryopathyherpetic encephalopathyherrmann opitz arthrogryposis syndromeherrmann opitz craniosynostosishersh podruch weisskopk syndromeHeterotaxiaheterotaxia autosomal dominant typeheterotaxy visceral x linkedheterotaxy with polysplenia or aspleniahexosaminidase a deficiencyhexosaminidases a and b deficiencyhhh syndromehidradenitis suppurativa familialhidrotic ectodermal dysplasia halal typehidrotic ectodermal dysplasia type christianson fouriehigh -molecular-weight kininogen deficiencyhigh scapulahillig syndromehing torack dowston syndromehinson-pepys diseasehip dysplasia beukes typehipo syndromehirschsprung diseasehirschsprung disease deafness polydactylyhirschsprung disease ganglioneuroblastomahirschsprung disease polydactyly heart diseasehirschsprung disease type 1hirschsprung disease type 2hirschsprung disease type 3hirschsprung disease type d brachydactylyhirschsprung disease with pigmentary anomalyhirschsprung microcephaly cleft palatehirschsprung nail hypoplasia dysmorphismhirsutism congenital gingival hyperplasiahirsutism skeletal dysplasia mental retardationhis bundle tachycardiahistidase deficiencyhistidinemiahistidinuria renal tubular defecthistiocytosis xHistoplasmosishittner hirsch kreh syndromehm syndromehmc syndromehmg coa synthetase deficiencyhnpccho kaufman podos syndromehodgkin diseasehodgkin lymphomahoepffner dreyer reimers syndromeholmes benacerraf syndromeholmes borden syndromeholmes collins syndromeholmes gang syndromeholoacardius amorphusholocarboxylase synthetase deficiencyholoprosencephalyholoprosencephaly caudal dysgenesisholoprosencephaly craniosynostosisholoprosencephaly deletion 2pholoprosencephaly ectrodactyly cleft lip palate

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holoprosencephaly postaxial polydactylyholoprosencephaly radial heart renal anomaliesholt oram syndromeholzgreve wagner rehder syndromehomocarnosinase deficiencyhomocarnosinosishomocystinuria due to cystathionine beta synthase deficiencyhomocystinuria due to defect in methylation (cbl e)homocystinuria due to defect in methylation (cbl g)homocystinuria due to defect in methylation (mthfr deficiency)hoon hall syndromehordnes engebretsen knudtson syndromehorn kolb syndromehornova dlurosova syndromehorseshoe kidneyhorton diseasehoulston ironton temple syndrome dehoward young syndromeHowell-Evans syndromehoyeraal hreidarsson syndromehoyeraal syndromehumero spinal dysostosis congenital heart diseasehumeroradial synostosishumeroradioulnar synostosishumerus trochlea aplasia ofhunter carpenter mc donald syndromehunter jurenka thompson syndromehunter macpherson syndromehunter mcalpine syndromehunter mcdonald syndromehunter rudd hoffmann syndromehunter syndromehunter thomson reed syndromehuntington choreahuntington diseaseHuriez scleroatrophic syndromehurler syndromehurst hallam hockey syndromehutchinson gilford progeria syndromehutteroth spranger syndromehyalinosis systemic short staturehydantoin antenatal infectionHydatidosishyde forster mccarthy berry syndromehydranencephalyhydrocephalus autosomal recessivehydrocephalus blue sclera nephropathyhydrocephalus cataract microphthalmoshydrocephalus cleft palate joint contractureshydrocephalus costovertebral dysplasia sprengel anomalyhydrocephalus craniosynostosis bifid nosehydrocephalus endocardial fibroelastosis cataracthydrocephalus growth retardation skeletal anomalieshydrocephalus obesity hypogonadismhydrocephalus skeletal anomalieshydrocephalus x linkedhydrocephaly corpus callosum agenesis diaphragmatic herniahydrocephaly low insertion umbilicushydrocephaly tall stature joint laxityhydrolethalus syndromehydronephrosis congenitalhydronephrosis peculiar facial expressionhydrops ectrodactyly syndactylyhydrops fetalishydrops fetalis anemia immune disorder absent thumbhydrops fetalis idiopathichydroxymethylglutaricaciduriahygroma cervicalHymenolepiasis

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hyper igd syndromehyper igm syndrome x linkedhyperaldosteronism familial type 1hyperaldosteronism familial type 2hyperargininemiahyperbilirubinemia rotor typehyperbilirubinemia transient familial neonatalhyperbilirubinemia type 1hyperbilirubinemia type 2hypercalciuria idiopathichypercalciuria macular colobomahypercholesterolemia due to arg3500 mutation of apo b100hypercholesterolemia due to ldl receptor deficiencyhypercholesterolemia familialhyperchylomicronemia, familialhyperekplexiahypereosinophilic syndromehyperferritinemia, hereditary, with congenital cataractshyperglycerolemiahyperglycinemia isolated nonketotichyperglycinemia isolated nonketotic type 1hyperglycinemia isolated nonketotic type 2hypergonadotropic ovarian failure, familial or sporadichyperimidodipeptiduriahyperimmunoglobinemia d with recurrent feverhyperimmunoglobulin e - reccurrent infection syndromehyperimmunoglobulinemia d with periodic feverhyperimmunoglobulinemie ehyperinsulinism familial with pancreatic nesidioblastosishyperkaliemic periodic paralysis type 2Hyperkeratosis lenticularis perstans of Flegelhyperkeratosis palmoplantar localized acanthokeratolytichyperkeratosis palmoplantar localized epidermolytichyperkeratosis palmoplantar with palmar crease hyperkeratosishyperlipoproteinemia type 1 and 5hyperlipoproteinemia type 3hyperlipoproteinemia type 4hyperlysinemiahyperornithinemiahyperornithinemia-hyperammonemia-homocitrullinuriahyperostosid corticalis deformans juvenilishyperostosis cortical infantilehyperostosis corticalis generalisatahyperostosis corticalis generalisatahyperostosis generalisata with striationshyperoxaluriahyperoxaluria type 1hyperoxaluria type 2hyperparathyroidism familial primaryhyperparathyroidism neonatal severe primaryhyperphalangism dysmorphy bronchomalaciahyperphenylalalinemia due to dihydropteridine reductase deficiencyhyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiencyhyperphenylalaninemia due to dehydratase deficiencyhyperphenylalaninemia due to gtp cyclohydrolase deficiencyhyperphenylalaninemic embryopathyhyperpipecolatemiahyperprolinemiahyperprolinemia type 1hyperprolinemia type 2hypertelorism and tetralogy of fallothypertelorism hypospadias polysyndactyly syndromehypertelorism hypospadias syndromehypertelorism microtia facial clefting syndromehypertension essentialhypertensive hyperkalemia familialhypertensive hypokalemia familialhypertensive hypokalemia recessivehyperthermia induced defects

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hyperthermia of anesthesiahyperthyroidism due to mutations in tsh receptorhypertrichosis atrophic skin ectropion macrostomiahypertrichosis brachydactyly obesity and mental retardationhypertrichosis congenital generalized x linkedhypertrichosis cubiti short staturehypertrichosis lanuginosa congenitahypertrichosis retinopathy dysmorphismhypertrichosis universalis congenita ambras typehypertrichotic osteochondrodysplasiahypertrophic hemangiectasiahypertrophic osteoarthropathy primary or idiopathichypertropic neuropathy of dejerine sottashypertryptophanemiahypo-alphalipoproteinemia primaryhypoadrenocorticism hypoparathyroidism moniliasishypoaldosteronismhypobetalipoproteinaemia ataxia hearing losshypobetalipoproteinemia familialhypocalcemia autosomal dominanthypocalciuric hypercalcemia familialhypocalciuric hypercalcemia familial type 1hypocalciuric hypercalcemia familial type 2hypocalciuric hypercalcemia familial type 3hypochondrogenesishypochondroplasiaHypodermyasishypodonadotropic hypogonadism alopeciahypodontia dysplasia of nailshypodontia of incisors and premolarshypofibrinogenemia, familialhypoglycemia with deficiency of glycogen synthetase in the liverhypogonadism cardiomyopathyhypogonadism cataract syndromehypogonadism hypogonadotropic due to mutations in the gonadotropin-releasinghormone receptorhypogonadism male mental retardation skeletal anomalieshypogonadism mitral valve prolapse mental retardationhypogonadism primary partial alopeciahypogonadism retinitis pigmentosahypogonadism, isolated, hypogonadotropichypogonadotropic hypogonadism anosmiahypogonadotropic hypogonadism anosmia x linkedhypogonadotropic hypogonadism syndactylyhypogonadotropic hypogonadism without anosmia x linkedhypokalemic alkalosis with hypercalciuriahypokaliemic periodic paralysis type 1hypokinetic cardiomyopathy familial dilatedhypomagnesemia primaryhypomandibular faciocranial dysostosishypomelanosis of itohypomelia mullerian duct anomalieshypomyelination neuropathyhypoparathyroidism familial isolatedhypoparathyroidism nerve deafness nephrosishypoparathyroidism short staturehypoparathyroidism short stature mental retardation seizureshypoparathyroidism x linkedhypophosphatasia infantilehypophosphatemia x linkedhypopigmentation oculocerebral syndrome cross typehypopituitarismhypopituitarism dwarfism skeletal anomalieshypopituitarism micropenis cleft lip palatehypopituitarism microphthalmiahypopituitarism postaxial polydactylyhypoplastic left heart syndromehypoplastic right heart microcephalyhypoplastic thumb mullerian aplasia

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hypoplastic thumbs hydranencephalyhypoplastic tibiae post axial polydactylyhypoproconvertinemiahypoprothrombinemiahyposmia nasal hypoplasia hypogonadismhypospadias dysphagia syndromehypospadias familialhypospadias mental retardation goldblatt typehypotelorism cleft palate hypospadiashypothalamic dysfunctionhypothalamic hamartoblastoma syndromehypothalamic hamartomashypothyroidism cleft palatehypothyroidism dermoid cyst cleft palateHypothyroidism due to iodide transport defecthypothyroidism postaxial polydactyly mental retardationhypotonic sclerotic muscular dystrophyhypotrichosishypotrichosis mental retardation lopes typehypoxanthine guanine phosphoribosyltransferase deficiencyi cell diseaseibids syndromeicf syndromeichthyosiform erythroderma corneal involvement deafnessichthyosis alopecia eclabion ectropion mental retardationichthyosis cheek eyebrow syndromeichthyosis congenita biliary atresiaichthyosis congenita collodion fetus typeichthyosis deafness mental retardation skeletal anomaliesichthyosis exfoliativaichthyosis follicularis atrichia photophobia syndromeichthyosis harlequin typeichthyosis hepatosplenomegaly cerebellar degenerationichthyosis male hypogonadismichthyosis mental retardation asymptomatic spasticityichthyosis mental retardation devriendt typeichthyosis mental retardation dwarfism renal impairmentichthyosis microphthalmosichthyosis tapered fingers midline groove upichthyosis x linkedichtyosis and male hypogonadismichtyosis bullosa of siemensichtyosis linearis circumflexaidaho syndromeidiopathic congenital nystagmus dominant x linkedidiopathic diffuse interstitial fibrosisidiopathic facial palsyidiopathic nephrotic syndrome steroid resistantidiopathic optic atrophy autosomal recessiveidiopathic orthostatic hypotensionidiopathic thrombocytopenic purpuraidiopathic torsion dystoniaidiopathic ventricular fibrillationiduronate 2 sulfatase deficiencyieshima koeda inagaki syndromeifap syndromeiga selective deficiency ofigda syndromeiida kannari syndromeillum syndromeilyina amoashy grygory syndromeimaizumi kuroki syndromeimmotile cilia syndrome due to defective radial spokesimmotile cilia syndrome due to excessively long ciliaimmotile cilia syndrome kartagener typeimmuno osseous dysplasia schimke typeimmunodeficiency with short limb dwarfismimperforate anusimperforate oropharynx costo vetebral anomalies

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impossible syndromeimpuberism and anovulation due to resistance to LHincisors fusedinclusion body myopathyinclusion body myositis ibmincontinentia pigmentiincontinentia pigmenti type 1incontinentia pigmenti type 2indomethacin antenatal infectioninfant epilepsy with migrant focal crisisinfantile axonal neuropathyinfantile multisystem inflammatory diseaseinfantile myofibromatosisinfantile onset spinocerebellar ataxiainfantile recurrent chronic multifocal osteomyolitisinfantile spasmsinfantile spasms broad thumbsinfantile spasms x linkedinfantile striato thalamic degenerationinfundibulopelvic stenosis multicystic kidneyinsentivity to pain with anhidrosisinsomnia familial fatalinstability mitotic non disjunctioninsulin resistant acanthosis nigricans type ainsulin-resistance type binsulin-resistant acanthosis nigricans, type ainsulinomainterferon gamma receptor 1 deficiencyinternal carotid agenesisintestinal atresia multipleintestinal lipodystrophyintestinal malrotation facial anomalies familial typeintestinal pseudoobstruction chronic idiopathicintracranial aneurysms multiple congenital anomaliesintracranial arterioveinous malformationintracranial teratomaintrathoracic kidney vertebral fusionintrauterine growth retardation mandibular malar hypoplasiaioan popa fryns syndromeiodine antenatal infectioniridogoniodysgenesis dominantiris colobomata cataract cardiopathyiris dysplasia hypertelorism deafnessirons bhan syndromeisaacs mertens syndromeischiadic hypoplasia renal dysfunction immunodeficiencyischiopatellar dysplasiaisochromosome 12p syndromeisochromosome 18pisolated lissencephalyIsosporosiasisisotretinoin embryopathyisovaleric acid coa dehydrogenase deficiencyisovaleric acidemiaisthmian coarctationito hypomelanosisivemark syndromeivic syndromejabs houk bias syndromejackson barr syndromejackson weiss syndromejacobs syndromejacobsen syndromejadassohn lewandowsky syndromejaffe campanacci syndromejaffer beighton syndromejagell holmgren hofer syndromejalili syndromejancar syndrome

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jankovic rivera syndromejansky bielschowsky diseasejarcho lewin syndromejejunal atresiajensen syndromejequier kozlowski skeletal dysplasiajervell lange nielsen syndromejeune syndromejeune syndrome situs inversusjob syndromejohanson blizzard syndromejohnson hall krous syndromejohnson munson syndromejohnson neuroectodermal syndromejohnston aarons schelley syndromejoint instability syndromejones hersh yusk syndromejones syndromejorgenson lenz syndromejoubert boltshauser syndromejoubert syndrome bilateral chorioretinal colobomajuberg hayward syndromejuberg marsidi syndromejudge misch wright syndromejung wolff back stahl syndromejuvenile ankylosing spondylarthritisjuvenile cataract cerebellar atrophy myopathy mental retardationjuvenile chronic arthritisjuvenile gastrointestinal polyposisjuvenile macular degeneration hypotrichosiskabuti make up syndromekalam hafeez syndromekaler garrity stern syndromekallin syndromekallmann syndromekallmann syndrome heart diseasekallmann syndrome type 1, X linkedkallmann syndrome type 2 dominantkallmann syndrome type 3 recessivekalyanraman syndromekantaputra gorlin syndromekaplan plauchu fitch syndromekaplowitz bodurtha syndromekaposiform hemangio-endotheliomakapur toriello syndromekarandikar maria kamble syndromekarsch neugebauer syndromekartagener syndromekasabach-merritt syndromekashani strom utley syndromekasznica carlson coppedge syndromekatsantoni papadakou lagoyanni syndromekatz syndromekaufman mckusick syndromekaufman oculocerebrofacial syndromekawasaki diseasekawashima tsuji syndromekbg syndromekearns sayre syndromekennedy diseasekennerknecht sorgo oberhoffer syndromekennerknecht vogel syndromekenny caffey syndromekenny syndromekeratitis ichthyosis deafnesskeratitis, hereditarykeratoacanthoma familialkeratoconus posticus circumscriptuskeratoderma ainhumoid and mutilans

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keratoderma hypotrichosis leukonychiakeratoderma palmoplantar deafnesskeratoderma palmoplantar spastic paralysiskeratoderma palmoplantaris transgredienskeratodermia palmoplantar periorificialkeratosis focal palmoplantar gingivalkeratosis folliculariskeratosis follicularis dwarfism cerebral atrophykeratosis follicularis spinula decalvanskeratosis palmoplantar periodontopathykeratosis palmoplantaris adenocarcinoma of the colonkeratosis palmoplantaris oesophageal colon cancerkeratosis palmoplantaris papulosakeratosis palmoplantaris periodontopathiakeratosis pilariskeratosis pilaris atrophicanskerion celsikersey syndromeketoaciduria mental deficiency ataxia deafnesskhalifa graham syndromeki 1 cell lymphomaKID syndromeKimura diseaseking syndromekinsbourne syndromekleeblattschaedel syndromeklein waardenburg syndromekleiner holmes syndromeKlinefelter syndromeklippel feil deformity conductive deafness absent vaginaklippel feil sequenceklippel feil syndromeklippel feil syndrome dominant typeklippel feil syndrome recessive typeklippel trenaunay weber syndromeklumpke paralysiskniest dysplasiakniest like dysplasia lethalknobloch layer syndromeknuckle pods leuconychia sensorineural deafnesskobberling dunnigan syndromekocher debre semelaigne syndromekohler's diseasekohlschutter tonz syndromekohn elrayyes makadmah syndromekok diseasekonigsmark knox hussels syndromekoone rizzo elias syndromekopysc barczyk krol syndromekorula wilson salomon syndromekostmann syndromekosztolanyi syndromekotzot richter syndromekoussef nichols syndromekousseff syndromekowarski syndromekozlowski brown hardwick syndromekozlowski celermajer syndromekozlowski massen syndromekozlowski ouvrier syndromekozlowski rafinski klicharska syndromekozlowski tsuruta syndromekozlowski tsuruta taki syndromekozlowski warren fisher syndromekozlowski-krajewska syndromekrabbe diseasekrasnow qazi syndromekrauss herman holmes syndromekrieble bixler syndrome

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kudo tamura fuse syndromekufs diseasekugelberg welander syndromekumar levick syndromekunze riehm syndromekurczynski casperson syndromekuskokwim diseasekuster majewski hammerstein syndromekuster syndromekuzniecky syndromekyphosis brachyphalangy optic atrophyl 2-hydroxyglutaricacidurialaband syndromelachiewicz sibley syndromelack of subcutaneous tissue arthritis skeletal dysplasialacrimoauriculodentodigital syndromelactate dehydrogenase deficiencylactate dehydrogenase type a deficiencylactate dehydrogenase type b deficiencylactate dehydrogenase type c deficiencylactic acidosis congenital infantileladd syndromeladda zonana ramer syndromelafora diseaselagophthalmia cleft lip palateLALlambdoid synostosis familiallambert syndromelamellar ichtyosislandau kleffner syndromeLandau-Kleffner syndromelanding diseaselandouzy dejerine myopathylandy donnai syndromelanger giedion syndromelanger nishino yamaguchi syndromelanger sadino type achondrogenesislangerhans cell granulomatosislangerhans cell histiocytosislaplane fontaine lagardere syndromelaron syndromelarsen like osseous dysplasia dwarfismlarsen like osseous dysplasia dwarfismlarsen like syndrome lethal typelarsen syndromelarsen syndrome craniosynostosislarsen syndrome dominant typelarsen syndrome recessive typelaryngeal abductor paralysislaryngeal abductor paralysis mental retardationlaryngeal and ocular granulation in indian childrenlaryngeal cleftlaryngeal web congenital heart disease short staturelaryngo onycho cutaneous syndromelaryngocelelaryngomalacia dominant congenitallaryngotracheoesophageal cleft pulmonary hypoplasialarynx atresiaLassueur-Graham-Little syndromelate onset dominant cone dystrophylateral body wall defectlaterality defectlaterality defects dominantlattice corneal dystrophy type 2Launois-Bensaude adenolipomatosislaurence moon syndromelaurence prosser rocker syndromelaurin sandrow syndromelaxova brown hogan syndrome

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lbwd syndromelcat deficiencylchad deficiencyle marec bracq picaud syndromele merrer syndromeleao ribeiro da silva syndromelearman syndromeleber amaurosis congenitaleber amaurosis congenita type 1leber amaurosis congenita type 2leber hereditary optic neuropathyleber miliary aneurysmlecithine-cholesterol acyltransferase deficiency (lcat)lee root fenske syndromeleft ventricule-aorta tunnelleg absence deformity cataractlegg calve perthes diseaselegionellosislehman syndromeleichtman wood rohn syndromeleifer lai buyse syndromeleigh diseaseleiomyomatose diffuse with alport syndromeleiomyomatosis familialleiomyomatosis of oesophagus cataract hematurialeipala kaitila syndromeleishmaniasisleisti hollister rimoin syndromelennox gastaut syndromelenz majewski hyperostotic dwarfismlenz microphtalmialeonard hughes syndromeleopard syndromeleprechaunismleprosyleptospirosisleri pleonosteosisleri weil syndromelesch nyhan syndromelethal chondrodysplasia moerman typelethal chondrodysplasia seller typelethal congenital contracture syndromelethal osteosclerotic bone dysplasialetterer siwe diseaseleucinosisleukocyte adhesion deficiencyleukocyte adhesion deficiency type 1leukocyte adhesion deficiency type 2leukodystrophy reunion typeleukoencephalopathy palmoplantar keratodermaleukoencephalopathy with vanishing white matterleukomelanoderma mental redardation hypotrichosisleukonychia totalis multiple sebaceous cysts renal calculilevic stefanovic nikolic syndromelevin syndromelevine crichley syndromelevy hollister syndromelewandowski kikolich syndromelewis ocular albinism (type 3)lewis pashayan syndromelewy body dementialeydig cells hypoplasiaLeydigomali fraumeni syndromelichen planus follicularislichstenstein syndromeliddle syndromelimb deficiencies distal micrognathialimb dystonia

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limb reduction defectlimb scalp and skull defectslimb transversal defect cardiac anomalylindsay burn syndromelindstrom syndromelinear hamartoma syndromelinear inflammatory verrucous epidermal nevuslinear nevus syndromelip lit syndromelipid storage myopathylipidosis with triglycerid storage diseaselipoamide dehydrogenase deficiencylipoatrophic diabeteslipodystrophy berardinelli typelipodystrophy familial partiallipodystrophy rieger anomaly diabeteslipoid congenital adrenal hyperplasialipoid proteinosis of Urbach and Wiethelipomatosis central non-encapsulatedlipomatosis familial benign cervicallipomatosis familial benign cervicallipomatosis of pancreas congenitallipoproteine lipase deficiencylisker garcia ramos syndromelison kornbrut feinstein syndromelissencephaly immunodeficiencylissencephaly syndrome miller dieker typelissencephaly type 1lissencephaly type 2lissencephaly x linkedlisteriosislobar atrophy of brainlobstein diseaselocalized epiphyseal dysplasialocked-in syndromelockwood feingold syndromeloffredo cennamo cecio syndromelogic syndromeloiasislong qt interval-deafnesslong qt syndrome familiallong qt syndrome type 1long qt syndrome type 2long qt syndrome type 3loose anagen hair syndromeloose anagene syndromelopes gorlin syndromelopes marques de faria syndromelopez hernandez syndromeLou-Gehrig diseaselow birth weight dwarfism dysgammaglobulinemialowe kohn cohen syndromelowe oculocerebrorenal syndromelowe syndromelower limb anomaly ureteral obstructionlower limb deficiency hypospadiaslower limb partial duplication renal agenesislower mesodermal defectslowry maclean syndromelowry syndromelowry wood syndromelowry yong syndromelubani al saleh teebi syndromelubinsky syndromelucey driscoll syndromelucky gelehrter syndromelujan fryns syndromelumbar malsegmentation short staturelundberg syndrome

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lung agenesis heart defect thumb anomalieslung herniation congenital defect of sternemlupus anticoagulant familiallupus erythematosus systemiclurie kletsky syndromeluteinizing hormone releasing hormone deficiency of with ataxilutz richner landolt syndromeLutz-Lewandowsky epidermodysplasia verruciformislyell syndromelyme diseaselymphangiectasies lymphoedema type hennekam typelymphangioleiomyomatosislymphangiomalymphangiomatosislymphatic filariasislymphedema distichiasislymphedema hereditary type 1lymphedema hereditary type 2lymphedema hydrocele cardiac defectslymphedema hypoparathyroidism syndromelymphedema ptosislymphoblastic lymphomalynch lee murday syndromeLynch syndromelynch-bushby syndromelyngstadaas syndromelysine alpha-ketoglutarate reductase deficiencylysinuric protein intolerancelysosomal acid lipase deficiencylysosomal alpha d mannosidase deficiencylysosomal beta mannosidase deficiencylysosomal glycogen storage disease with normal acid maltase activitymaaswinkel mooij stokvis brantsma syndromemac dermot patton williams syndromemac dermot winter syndromemaccario mena syndromemachado joseph diseasemacias flores garcia cruz rivera syndromemackay shek carr syndromemacleod fraser syndromemacrocephaly dominant typemacrocephaly mental retardation facial dysmorphismmacrocephaly mesodermal hamartoma spectrummacrocephaly mesomelic arms talipesmacrocephaly pigmentation large hands feetmacrocephaly short limbs deafnessmacrocephaly short stature paraplegiamacroepiphyseal dysplasia mcalister coe typemacroglossia dominantmacrogyria pseudobulbar palsymacrophage myofascitismacrosomia developmental delay dysmorphismmacrosomia microphthalmia cleft palatemacrosomia obesity macrocephaly ocular abnormalitiesmacrothrombocytopenia progressive deafnessmacular degeneration juvenilemacular degeneration, age-relatedmacular dystrophy vitelliformmacules hereditary congenital hypopigmented hyperpigmentedmadokoro ohdo sonoda syndromemaffucci syndromemaghazaji syndromemagnesium defect in renal tubular transport ofmagnesium wasting renalmajewxki ozturk syndromemal de meledamalakoplakiamalakoplasiamalaria

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male pseudohermaphroditism due to 17 beta hydroxysteroide dehydrogenasedeficiencymale pseudohermaphroditism due to 5 alpha reductase 2 deficiencymale pseudohermaphroditism due to androgen insensitivitymale pseudohermaphroditism due to defective lh moleculemale sterility due to y chromosome deletionsmale xx syndromemalignant fibrohistiocytomamalignant hyperthermia arthrogryposis torticollismalignant hyperthermia susceptibilitymalignant hyperthermia susceptibility type 1malignant hyperthermia susceptibility type 2malignant hyperthermia susceptibility type 3malignant hyperthermia susceptibility type 4malignant hyperthermia susceptibility type 5malignant hyperthermia susceptibility type 6malignant schwannomamalonic aciduriamalonyl-coa decarboxylase deficiencymalouf syndromemandibuloacral dysplasiamandibulofacial dysostosismandibulofacial dysostosis deafness postaxial polydactylymanic depressive psychosismanouvrier syndromemansonellosismaple syrup urine diseasemarashi gorlin syndromemarchiafava micheli diseasemarden walker like syndromemarden walker syndromemarfan like syndrome type boileaumarfan syndromemarfanoid build spondylolisthesis constricted pelvismarfanoid craniosynostosis syndromemarfanoid mental retardation syndrome autosomalMarie Unna congenital hypotrichosismarinesco sjogren like syndromemarinesco sjogren syndromemarion mayers syndromemarkel vikkula mulliken syndromemarles greenberg persaud syndromemaroteaux cohen solal bonaventure syndromemaroteaux fonfria syndromemaroteaux lamy syndromemaroteaux le merrer bensahel syndromemaroteaux stanescu cousin syndromemaroteaux verloes stanescu syndromemarphanoid syndrome type de silvamarsden nyhan sakati syndromemarshall smith syndromemarshall syndromemartinez monasterio pinheiro syndromemartsolf reed hunter syndromemartsolf syndromemasa syndromemassa casaer ceulemans syndromemassive osteolysismastocytosis, short stature, hearing lossmastroiacovo de rosa satta syndromemastroiacovo gambi segni syndromemat deficiencymaternal hyperphenylalaninemiamaternally inherited diabetes and deafnessmaternally inherited leigh syndromemathieu de broca bony syndromematsoukas liarikos giannika syndromematthew wood syndromematurity onset diabetes of the young

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maumenee syndromemaxillofacial dysostosismaxillonasal dysplasia binder typemay hegglin thrombocytopeniamayer rokitanski kuster syndromemcad deficiencymcalister coe white syndromemcalister crane syndromemccallum macadam johnston syndromemccune albright syndromemcdonough syndromemcdowall syndromemcgillivray syndromemckusick kaufman syndromemclain debakian syndromemcph syndromemcpherson clemens syndromemcpherson robertson cammarano syndromemeacham winn culler syndrome deMeadows syndromeMEB (Muscle-Eye-Brain) syndromemeckel like syndromemeckel syndromemedeira dennis donnai syndromemedian cleft face syndromemedian cleft lip corpus callosum lipoma skin polypmedian nodule of the upper lipmediterranean fever familialmedrano roldan syndromemedullary cystic kidneymedullary sponge kidneymedullary thyroid cancermedulloblastomamegacystis microcolon intestinal hypoperilstasis hydronephrosismegaduodenum and/or megacystismegaepiphyseal dwarfismmegalencephalic leukodystrophymegalencephaly cystic leukodystrophy syndromemegalencephaly familialmegalocornea mental retardation syndromemehes syndromemehta lewis patton syndromemeier blumberg imahorn syndromemeier gorlin syndromemeier rotschild syndromemeige syndromemeigel diseasemeinecke pepper syndromemeinecke syndromemelanocytosis myelomeningocelemelanoma familialmelanoma type 1melanoma type 2melanosis neurocutaneousmelas syndromemelhem fahl syndromemelkersson rosenthal syndromemelnick needles osteodysplastymelorheostosismenetrier's diseasemengel konigsmark syndrome demeningeal angiomatosis cleft hypoplastic left heartmeningiomameningoencephalocele-arthrogryposis-hypoplastic thumbmenkes kinky hair syndromemental deficiency epilepsy endocrine disordersmental mixed retardation deafnes clubbed digitsmental retardatio-polydactyly-uncombable hairmental retardation anophthalmia craniosynostosis

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mental retardation arachnodactyly hypotonia telangiectasiamental retardation athetosis microphthalmiamental retardation balding patella luxation acromicriamental retardation blepharophimosis obesity web neckmental retardation buenos aires typemental retardation cataracts calcified pinnae myopathymental retardation coloboma slimnessmental retardation contractural arachnodactylymental retardation dysmorphism hypogonadism diabetes mellitusmental retardation epilepsymental retardation epilepsy bulbous nosemental retardation gynecomastia obesity x linkedmental retardation hip luxation g6pd variantmental retardation hypocupraemia hypobetalipoproteinaemiamental retardation hypoplastic corpus callosum preauricular tagmental retardation hypotonia skin hyperpigmentationmental retardation macrocephaly coarse facies hypotoniamental retardation microcephaly phalangeal facial abnormalitiesmental retardation microcephaly unusual faciesmental retardation multiple nevimental retardation myopathy short stature endocrine defectmental retardation nasal hypoplasia obesity genital hypoplasiamental retardation nasal papillomatamental retardation osteosclerosismental retardation progressive spasticitymental retardation psychosis macroorchidismmental retardation short broad thumbsmental retardation short stature absent phalangesmental retardation short stature bombay phenotypemental retardation short stature cleft palate unusual faciesmental retardation short stature deafness genitalmental retardation short stature hand contractures genital anomaliesmental retardation short stature heart and skeletal defectsmental retardation short stature hypertelorismmental retardation short stature microcephaly eyemental retardation short stature ocular and articular anomaliesmental retardation short stature scoliosismental retardation short stature unusual faciesmental retardation short stature wedge shaped epipmental retardation skeletal dysplasia abducens palsymental retardation smith fineman myers typemental retardation sparse hair brachydactylymental retardation spasticity ectrodactylymental retardation type mietens webermental retardation unusual faciesmental retardation unusual facies ampola typemental retardation unusual facies davis lafer typemental retardation unusual facies hypothyroidismmental retardation unusual facies talipes hand anomaliesmental retardation wolff typemental retardation x linked borderline maoa metabolism anomalymental retardation x linked dysmorphismmental retardation x linked dystonia dysarthriamental retardation x linked juberg marsidi typemental retardation x linked marfanoid habitusmental retardation x linked nonspecificmental retardation x linked severe gustavson typemental retardation x linked short stature obesity hypogonadismmental retardation x linked tranebjaerg type seizures psoriasismental retardation x linked type atkinmental retardation x linked type brunnermental retardation-unusual facies-intrauterine growth retard.meretoja syndromemerlob grunebaum reisner syndromemerlob syndromemerrf syndromemesangial sclerosis diffusemesodermal defects lower typemesomelia radial hypoplasia bifid thumb unusual facies

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mesomelia synostosesmesomelic dwarfism cleft palate camptodactylymesomelic dwarfism langer typemesomelic dwarfism nievergelt typemesomelic dwarfism reinhardt pfeiffer typemesomelic dysplasia skin dimplesmesomelic dysplasia thai typemetacarpals 4 and 5 fusionmetachondromatosismetachromatic leukodystrophymetageriametaphyseal anadysplasiametaphyseal chondrodysplasia congenital lethalmetaphyseal chondrodysplasia dominant typemetaphyseal chondrodysplasia kaitila typemetaphyseal chondrodysplasia mckusick typemetaphyseal chondrodysplasia recessive typemetaphyseal chondrodysplasia retinitis pigmentosametaphyseal chondrodysplasia schmid typemetaphyseal chondrodysplasia shwachman typemetaphyseal chondrodysplasia spahr typemetaphyseal chondrodystrophy sussman typemetaphyseal dysostosis mental retardation conductive deafnessmetaphyseal dysplasia hypertelorism hypospadiasmetaphyseal dysplasia maxillary hypoplasia brachydactymetaphyseal dysplasia pyle typemetatropic dwarfismmetatropic dwarfism type 2metatropic dysplasia 1methimazole antenatal infectionmethionine synthase deficiencymethyl mercury antenatal infectionmethylcobalamin deficiency (cbl e)methylcobalamin deficiency (cbl g)methylenetetrahydrofolate reductase deficiencymethylmalonic acidemia with homocystinuriamethylmalonic aciduria microcephaly cataractmethylmalonicacidemia with homocystinuria (cbl c)methylmalonicacidemia with homocystinuria (cbl d)methylmalonicaciduria vitamin b12 unresponsive mut 0methylmalonicaciduria with homocystinuriamethylmalonicaciduria with homocystinuria (cbl f)methylmalonyl coenzyme a mutase deficiencymevalonate kinase deficiencymevalonicaciduriamichelin tire baby syndromemichels caskey syndromemichels syndromemickleson syndromemicrencephaly corpus callosum agenesismicrencephaly olivopontocerebellar hypoplasiamicro syndromemicrobrachycephaly ptosis cleft lipmicrocephalic osteodysplastic primordial dwarfism taybi linder typemicrocephalic osteodysplastic primordial dwarfism type 1microcephalic osteodysplastic primordial dwarfism type 2microcephalic osteodysplastic primordial dwarfism type 3microcephalic primordial dwarfismmicrocephalic primordial dwarfism toriello typemicrocephalymicrocephaly albinism digital anomalies syndromemicrocephaly autosomal dominantmicrocephaly brachydactyly kyphoscoliosismicrocephaly brain defect spasticity hypernatremiamicrocephaly cardiac defect lung malsegmentationmicrocephaly cardiomyopathymicrocephaly cervical spine fusion anomaliesmicrocephaly chorioretinopathy recessive formmicrocephaly cleft palate autosomal dominant

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microcephaly deafness syndromemicrocephaly developmental delay pancytopeniamicrocephaly facial clefting preaxial polydactylymicrocephaly glomerulonephritis marfanoid habitusmicrocephaly hiatus hernia nephrotic syndromemicrocephaly hypergonadotropic hypogonadism short staturemicrocephaly hypogammaglobulinemia abnormal immunitymicrocephaly immunodeficiency lymphoreticulomamicrocephaly intracranial calcificationmicrocephaly lymphoedema chorioretinal dysplasiamicrocephaly lymphoedema syndromemicrocephaly mental retardation retinopathymicrocephaly mental retardation spasticity epilepsymicrocephaly mesobrachyphalangy tracheoesophageal fistulamicrocephaly microcornea syndrome seemanova typemicrocephaly micropenis convulsionsmicrocephaly microphtalmos blindnessmicrocephaly pontocerebellar hypoplasia dyskinesiamicrocephaly seizures mental retardation heart diseasemicrocephaly sparse hair mental retardation seizuresmicrocephaly syndactyly brachymesophalangymicrocoria autosomal dominantmicrocoria congenitalmicrocornea corectopia macular hypoplasiamicrocornea glaucoma absent frontal sinusesmicrodeletion 22q11microdontia hypodontia short staturemicrogastria limb reduction defectmicrogastria short stature diabetesmicromelic dwarfism fryns typemicromelic dysplasia dislocation of radiusmicrophtalmos bilateral colobomatous orbital cystmicrophthalmiamicrophthalmia camptodactyly mental retardationmicrophthalmia cataractmicrophthalmia diaphragmatic hernia fallotmicrophthalmia lentz typemicrophthalmia mental deficiencymicrophthalmia microtia fetal akinesiamicroscopic polyangiitismicrosomia hemifacial radial defectsmicrospherophakia metaphyseal dysplasiamicrosporidiosismicrotiamicrotia meatal atresia conductive deafnessmicrotia meatal atresia deafness dominantmicrovillous inclusion diseasemidas syndromemidline cleft of lower lipmidline defects autosomal typemidline defects recessive typemidline developmental field defectsmidline field defectsmietens syndromemievis verellen dumoulin syndromemikati najjar sahli syndromemiller dieker syndromemiller fisher syndromemiller syndromemilner khallouf gibson syndromemils syndromeMinkowski-Chauffard diseaseminoxidil antenatal infectionmiosis congenitalmirror hands feet nasal defectsmirror polydactyly segmentation and limbs defectsmitochondrial acetoacetyl-coa thiolase deficiencymitochondrial diseases of nuclear originmitochondrial encephalomyopathy

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mitochondrial encephalomyopathy aminoacidopathymitochondrial myopathymitochondrial myopathy encephalopathy lactic acidosismitochondrial myopathy lactic acidosismitochondrial trifunctional protein deficiencymitral atresiamitral regurgitation deafness skeletal anomaliesmitral valve prolapse familialmitral valve prolapse familial autosomal dominantmitral valve prolapse familial X linkedmiura syndromemixed connective tissue diseasemixed sclerosing bone dystrophymls syndromemls syndromemmep syndromemmt syndromemngie syndromeMODY syndromemoebius axonal neuropathy hypogonadismmoebius syndromemoerman vandenberghe fryns syndromemoeschler clarren syndromemohr syndromeMohr-Tranebjaerg syndromemolarization of anterior teeth deafnessmollica pavone antener syndromemoloney syndromemolybdenum cofactor deficiencymomo syndromeMonilethrixmonoamine oxidase a deficiencymonodactyly tetramelicmononen karnes senac syndromemonosomy 10pmonosomy 10ptermonosomy 10qmonosomy 11p11 p12monosomy 11q partialmonosomy 12p12 p11monosomy 12p13monosomy 13qmonosomy 13q14monosomy 13q22monosomy 13q32monosomy 14q11monosomy 14q31monosomy 14qtermonosomy 15q1monosomy 15q25monosomy 17q23 q24monosomy 18 mosaicismmonosomy 18pmonosomy 18qmonosomy 18q23monosomy 1pmonosomy 1p22 p13monosomy 1p31 p22monosomy 1p32monosomy 1p34 p32monosomy 1p36monosomy 1q21 q25monosomy 1q25 q32monosomy 1q32 q42monosomy 1q4monosomy 20pmonosomy 21monosomy 21q22monosomy 2p22

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monosomy 2pter p24monosomy 2qmonosomy 2q duplication 1pmonosomy 2q24monosomy 2q37monosomy 2q37monosomy 3pmonosomy 3p14 p11monosomy 3p25monosomy 3q13monosomy 3q21 23monosomy 3q27monosomy 4pmonosomy 4p14 p16monosomy 4qmonosomy 4q32monosomy 5pmonosomy 5q35monosomy 6p23monosomy 6qmonosomy 6q1monosomy 6q13 q15monosomy 6q16 q21monosomy 6q2monosomy 7monosomy 7q21monosomy 7q3monosomy 8pmonosomy 8p23 1monosomy 8qmonosomy 8q12 21monosomy 8q21 q22monosomy 9pmonosomy xmonosomy xp22 ptermonosomy xq28montefiore syndromemoore federman syndromemoore smith weaver syndromemoore weaver syndromemoreno zachai kaufman syndromemorhosseini holmes walton syndromemorillo cucci passarge syndromemorquio diseasemorquio disease type amorquio disease type bmorrison young syndromemorse rawnsley sargent syndromemosaic variegated aneuplody microcephaly syndromemotor neuropathy peripheral dysautonomiamotor sensory neuropathy type 1 aplasia cutis congenitamounier kuhn syndromemount reback syndromemousa al din al nassar syndromemoya moya diseasemoynahan syndromempo deficiencymrx35msbd syndromemthfr deficiencymuckle wells syndromemucocutaneous lymph node syndromemucoepithelial dysplasiamucolipidosis type 1mucolipidosis type 2mucolipidosis type 3mucolipidosis type 4mucopolysaccharidosis type 1mucopolysaccharidosis type 2

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mucopolysaccharidosis type 3mucopolysaccharidosis type 3amucopolysaccharidosis type 3bmucopolysaccharidosis type 3cmucopolysaccharidosis type 3dmucopolysaccharidosis type 4mucopolysaccharidosis type 4amucopolysaccharidosis type 4bmucopolysaccharidosis type 6mucopolysaccharidosis type 7mucosulfatidosismuir torre syndromemulibrey dwarfismmuller barth menger syndromemullerian derivatives lymphangiectasia polydactylymullerian derivatives persistentmullerian duct abnormalities galactosemiamulliez roux loterman syndromemulticentric osteolysis nephropathymultifocal motor neuropathy with conduction blockmultinodular goiter cystic kidney polydactylymultiple acyl-coa deficiencymultiple carboxylase deficiencymultiple carboxylase deficiency biotin responsivemultiple carboxylase deficiency late onsetmultiple congenital anomalies mental retardation growth failure cleft lip palatemultiple congenital anomalies robinow unger typemultiple congenital anomalies ulerythema ophryogenesismultiple contracture syndrome finnish typemultiple endocrine neoplasia type 1multiple endocrine neoplasia type 2multiple epiphyseal dysplasia eiken petersen typemultiple epiphyseal dysplasia ribbing typemultiple epiphyseal dysplasia type 2multiple fibrofolliculoma familialmultiple hamartoma syndromemultiple joint dislocations metaphyseal dysplasiamultiple pterygium syndromemultiple pterygium syndrome lethal typemultiple sclerosismultiple sclerosis ichthyosis factor 8 deficiencymultiple sulfatase deficiencymultiple synostosis syndromemultiple system atrophymultiple vertebral anomalies unusual faciesmulvihill smith syndromemurcs associationmuscle eye brain diseasemuscle phosphofructokinase deficiencymuscular atrophy ataxia retinitis pigmentosa diabetes mellitusmuscular dystrophy congenital infantile cataract hypogonadismmuscular dystrophy congenital merosin negativemuscular dystrophy congenital merosin positivemuscular dystrophy duchenne and becker typemuscular dystrophy duchenne and becker typemuscular dystrophy fukuyama typemuscular dystrophy hutterite typemuscular dystrophy limb girdlemuscular dystrophy limb girdle autosomal dominant type 1A, chromosome 5-linkedmuscular dystrophy limb girdle autosomal dominant with cardiac involvement type1B, chromosome 15-linkedmuscular dystrophy limb girdle autosomal dominant with caveolin deficiencymuscular dystrophy limb girdle type 2A, Erb typemuscular dystrophy limb girdle type 2B, Myoshi type, chromosome 2-linkedmuscular dystrophy limb girdle with sarcoglycan alpha deficiencymuscular dystrophy limb girdle with sarcoglycan beta deficiencymuscular dystrophy limb girdle with sarcoglycan delta deficiencymuscular dystrophy limb girdle with sarcoglycan gamma deficiencymuscular dystrophy white matter spongiosis

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muscular fibrosis multifocal obstructed vesselsmuscular phosphorylase kinase deficiencymutation in the aromatase genemutations in oestradiol receptormyalgia eosinophilia associated with tryptophanmyasthenia familialmyasthenia gravismyasthenia gravismycetomamycosis fungoides, familialmyelinosis centralis diffusamyelocerebellar disordermyelodysplasia facial dysmorphismmyelomeningocelemyeloperoxidase deficiencymyhre ruvalcaba graham syndromemyhre ruvalcaba kelley syndromemyhre school syndromemyoclonic epilepsy juvenilemyoclonus ataxiamyoclonus cerebellar ataxia deafnessmyoclonus epilepsy ragged red fibersmyoclonus hereditary progressive distal muscular atrophymyoclonus progressive epilepsy of unverricht and lundborgmyoglobinuriamyoglobinuria dominant formmyoglobinuria recurrentmyoneurogastrointestinal encephalopathy syndromemyopathy and diabetes mellitusmyopathy cataract hypogonadismmyopathy congenital multicore with external ophtalmoplegiamyopathy growth and mental retardation hypospadiasmyopathy hutterite typemyopathy Mc Ardle typemyopathy mitochondrial cataractmyopathy moebius robin syndromemyopathy ophthalmoplegia hypoacousia areflexiamyopathy tubular agregatesmyopathy with lactic acidosis and sideroblastic anemiamyopathy with lysis of type 1 myofibrilsmyophosphorylase deficiencymyopia , infantile severemyopia severemyositis ossificans progressivamyotonia mental retardation skeletal anomaliesmyotonic chondrodystrophymyotubular myopathymyxoma spotty pigmentation endocrine overactivityn acetyl alpha glucosaminidase sulfamidase deficiencyn acetyl glucosamine 1 phosphotransferase deficiencyn acetyl glucosamine 6 sulfate sulfatase deficiencyn acetyltransferase deficiencyn syndromen-acetyl-alpha-d-galactosaminidasen-acetylglutamate synthetase deficiencyn5-methylhomocysteine transferase deficiencynadh coq reductase deficiency ofnadh cytochrome b5 reductase deficiency ofnadh diaphorase deficiency ofnadh methemoglobin reductase deficiency ofnaegelli syndromenager acrofacial dysostosisnaguib richieri costa syndromenaguib syndromenail patella like renal diseasenail patella syndromenakajo nishimura syndromenakajo syndromenakamura osame syndrome

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NAME syndromenance horan syndromenance insley syndromenanism due to combined pituitary hormone deficiencynanism due to growth hormone isolated deficiencynanism due to growth hormone isolated deficiency autisomal dominant typenanism due to growth hormone isolated deficiency autosomal recessive typenanism due to growth hormone isolated deficiency with x linkedhypogammaglobulinemiananism due to growth hormone isolated deficiency x linked recessive typenanism due to growth hormone qualitative anomalynanism due to growth hormone resistancenarcolepsy cataplexynarp syndromenarrow oral fissure short stature cone shaped epiphysesnasodigitoacoustic syndromenasopalpebral lipoma coloboma syndromenasopharyngeal cancernasopharyngeal teratoma dandy walker diaphragmatic hernianatal teeth intestinal pseudoobstruction patent ductusnathalie syndromenecrotizing encephalopathy infantile subacutenegative rheumatoid factor polyarthritisnemaline myopathyneonatal death immune deficiencyneonatal diabetesneonatal hemochromatosisneonatal osseous dysplasia 1neonatal ovarian cystnephritis iga typenephroblastomanephroblastomatosis,fetal ascites,macrosomia and wilms tumornephrocalcinosisnephrolithiasis type 2nephronophtisisnephronophtisis familial adult spastic quadriparesisnephropathy deafness hyperparathyroidismnephropathy familial with goutnephropathy familial with hyperuricemianephrosis deafness urinary tract digital malformationsnephrosis neuronal dysmigration syndromenephrotic syndrome ocular anomaliesnesidioblastosis of pancreasnetherton diseasenettleship falls ocular albinism (type 1a)neu laxova syndromeneuhauser daly magnelli syndromeneuhauser eichner opitz syndromeneural crest tumourneural tube defects x linkedneuraminidase beta galactosidase deficiencyneuraminidase deficiencyneuritis with brachial predilectionneuroaxonal dystrophy late infantileneuroaxonal dystrophy renal tubular acidosisneuroblastomaneurocutaneous syndrome,abdallat typeneuroectodermal endocrine syndromeneuroectodermal syndrome,zunich typeneuroendocrine tumorneuroepitheliomaneurofaciodigitorenal syndromeneurofibromatosis noonan syndromeneurofibromatosis type 1neurofibromatosis type 2neurofibromatosis type 3neurofibromatosis type 6neuronal heterotopianeuronal intestinal pseudoobstruction

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neuronal intranuclear hyaline inclusion diseaseneuronal intranuclear inclusion diseaseneuropathy ataxia and retinis pigmentosaneuropathy congenital sensory neurotrophic keratitisneuropathy giant axonalneuropathy hereditary motor and sensory lom typeneuropathy hereditary with liability to pressure palsiesneuropathy motor sensory type 2 deafness mental retardationneuropathy motor sensory type 2 deafness mental retardationneuropathy sensory spastic paraplegianeurosensory nonsyndromic recessive deafnessneurosensory nonsyndromic recessive deafness dfnb1 linkedneurosensory nonsyndromic recessive deafness dfnb10 linkedneurosensory nonsyndromic recessive deafness dfnb11 linkedneurosensory nonsyndromic recessive deafness dfnb12 linkedneurosensory nonsyndromic recessive deafness dfnb13 linkedneurosensory nonsyndromic recessive deafness dfnb14 linkedneurosensory nonsyndromic recessive deafness dfnb15 linkedneurosensory nonsyndromic recessive deafness dfnb16 linkedneurosensory nonsyndromic recessive deafness dfnb17 linkedneurosensory nonsyndromic recessive deafness dfnb18 linkedneurosensory nonsyndromic recessive deafness dfnb19 linkedneurosensory nonsyndromic recessive deafness dfnb2 linkedneurosensory nonsyndromic recessive deafness dfnb20 linkedneurosensory nonsyndromic recessive deafness dfnb3 linkedneurosensory nonsyndromic recessive deafness dfnb4 linkedneurosensory nonsyndromic recessive deafness dfnb5 linkedneurosensory nonsyndromic recessive deafness dfnb6 linkedneurosensory nonsyndromic recessive deafness dfnb7 linkedneurosensory nonsyndromic recessive deafness dfnb8 linkedneurosensory nonsyndromic recessive deafness dfnb9 linkedneutral lipid storage myopathyneutropenia and hyperlymphocytosis with large granular lymphocytesneutropenia cyclicneutropenia intermittentneutropenia monocytopenia deafnessneutropenia severe congenitalNevi atrial myxoma melanocytic nevi ephelidesnevi flammei familial multiplenevo syndromenevoid basal cell carcinomanevus of ota retinitis pigmentosanevus sebaceus of jadassohnnezelof syndromenhlnicolaides baraitser syndromeniemann pick a and b diseaseniemann pick c diseaseniemann pick c1 diseaseniemann pick c2 diseasenievergelt syndromenight blindness congenital stationary with myopianight blindness skeletal anomalies unusual faciesniikawa kuroki syndromenijmegen breakage syndromenivelon nivelon mabille syndromenoack syndromenoble bass sherman syndromenodular erythema digital changesnomanon hodgkin malignant lymphomanon-functioning pancreatic endocrine tumornoninsulin-dependent diabetes mellitus with deafnessnonne milroy syndromenoonan like contracture myopathy hyperpyrexianoonan like syndromenoonan syndromenorman roberts lissencephaly syndromenormokaliemic periodic paralysis

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norrie diseasenorthern epilepsynorum diseasenose agenesianose polyposis, familialnova syndromenovak syndromeo doherty syndromeo donnell pappas syndromeoccipital horn syndromeoccult spinal dysraphismochoa syndromeocular apraxia cogan typeocular coloboma imperforate anusocular coloboma recessive typeoculo cerebral dysplasiaoculo cerebro acral syndromeoculo cerebro osseous syndromeoculo digital syndromeoculo facio cardio dental syndromeoculo oto radial syndromeoculo skeletal renal syndromeoculo tricho anal syndromeoculo tricho dysplasiaoculo-urethro-synovial syndromeoculoauriculofrontonasal syndromeoculoauriculovertebral dysplasiaoculocerebral hypopigmentation syndrome cross typeoculocerebral hypopigmentation syndrome type preusoculocerebrocutaneous syndromeoculocutaneous albinismoculocutaneous albinism immunodeficiencyoculocutaneous albinism type 1oculocutaneous albinism type 2oculocutaneous albinism type 3oculocutaneous albinism tyrosinase negativeoculocutaneous albinism tyrosinase positiveoculocutaneous tyrosinemiaoculodental syndrome rutherfurd syndromeoculodentodigital dysplasia dominantoculodentoosseous dysplasia dominantoculodentoosseous dysplasia recessiveoculogastrointestinal muscular dystrophyoculomaxillofacial dysostosisoculomelic amyoplasiaoculopalatocerebral dwarfismoculopalatoskeletal syndromeoculopharyngeal muscular dystrophyoculorenocerebellar syndromeodonto onycho dysplasia with alopeciaodontochondrodysplasiaodontomatosis aortae oesophagus stenosisodontomicronychial dysplasiaodontoonychodermal dysplasiaodontotrichomelic hypohidrotic dysplasiaoeis complexoerter friedman anderson syndromeoesophageal atresiaoesophageal atresia associated anomaliesoesophageal duodenal atresia abnormalities of hands and feetofd syndrome type 8ofd syndrome type figueraohaha syndromeohdo madokoro sonoda syndromeokamuto satomura syndromeokihiro syndromeoligodactyly tetramelic postaxialoligomeganephronic renal hypoplasiaoligomeganephrony

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oliver mcfarlane syndromeoliver syndromeolivopontocerebellar atrophy deafnessolivopontocerebellar atrophy type 1olivopontocerebellar atrophy type 2olivopontocerebellar atrophy type 3olivopontocerebellar hypoplasia lethal typeOllier diseaseOlmsted syndromeomodysplasiaomodysplasia autosomal recessive formomphaloceleomphalocele cleft palate syndrome lethalomphalocele exstrophy imperforate anusomphalomesenteric cystonat syndromeonchocercosisondine syndromeonychonychia hypoplasic distal phalangesonychoosteodysplasiaonychotrichodysplasia and neutropeniaoochs syndromeophtalmic ichtyosisophtalmomandibulomelic dysplasiaophtalmoplegia myalgia tubular aggregatesophthalmo acromelic syndromeophthalmoplegia ataxia hypoacusisophthalmoplegia mental retardation lingua scrotalisophthalmoplegia progressive external scoliosisopitz frias syndromeopitz mollica sorge syndromeopitz reynolds fitzgerald syndromeopitz syndrome x-linkedopitz trigonocephaly syndromeopsismodysplasiaoptic atrophyoptic atrophy autosomal dominantoptic atrophy deafness neuropathyoptic atrophy leber typeoptic atrophy ophthalmoplegia ptosis deafness myopiaoptic atrophy polyneuropathy deafnessoptic nerve coloboma with renal diseaseoptic pathway gliomaopticoacoustic nerve atrophy dementiaoral facial digital syndromeoral facial digital syndrome type 3oral facial digital syndrome type 4oral facial dyskinesiaornithine aminotransferase deficiencyornithine carbamoyltransferase deficiencyoro acral syndromeorocraniodigital syndromeorofaciodigital syndrome gabrielli typeorofaciodigital syndrome shashi typeorofaciodigital syndrome thurston typeorofaciodigital syndrome type 2orofaciodigital syndrome type 8orofaciodigital syndrome type figueraorofaciodigital syndrome type1oromandibular limb hypoplasiaoromandibular limb hypoplasiaorotic aciduria hereditaryoroticaciduriaorotidylic decarboxylase deficiencyosebold remondini syndromeoslam syndromeosteoarthropathy of fingers familialosteochondritis deformansosteochondritis dissecans

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osteochondrodysplasia thrombocytopenia hydrocephalusosteocraniostenosisosteodysplasia familial anderson typeosteodysplastic dwarfism corsello typeosteoectasia familialosteogenesis imperfectaosteogenesis imperfecta congenita microcephaly and cataractsosteogenesis imperfecta congenita neonatal lethal formosteogenesis imperfecta congenital joint contracturesosteogenesis imperfecta retinopathyosteogenesis imperfecta type 1osteogenesis imperfecta type 2 dominant formosteogenesis imperfecta type 2 recessive formosteogenesis imperfecta type 3osteogenesis imperfecta type 4osteogenesis imperfecta vrolik typeosteogenesis imperfecta with blue scleraeosteogenic sarcomaosteoglophonic dwarfismosteolysis hereditary multicentricosteolysis syndrome recessiveosteomesopyknosisosteopathia condensans disseminata with osteopoikilosisosteopathia striata cranial sclerosisosteopathia striata pigmentary dermopathy white forelockosteopenia mental retardation sparse hairosteopetrosisosteopetrosis autosomal dominant type 1osteopetrosis autosomal dominant type 2osteopetrosis lethalosteopetrosis malignantosteopetrosis mild autosomal recessive formosteopetrosis renal tubular acidosisosteopoikilosisosteoporosis macrocephaly mental retardation blindnessosteoporosis oculocutaneous hypopigmentation syndromeosteoporosis pseudoglioma syndromeosteosarcomaosteosarcoma limb anomalies erythroid macrocytosisosteosclerose type stanescuosteosclerosis abnormalities of nervous system and meningeosteosclerosis autosomal dominant worth typeostertag type amyloidosisostravik lindemann solberg syndromeota kawamura ito syndromeotodental dysplasiaotofaciocervical syndromeotoonychoperoneal syndromeotopalatodigital syndromeotopalatodigital syndrome type 1otopalatodigital syndrome type 2otosclerosisotospondylomegaepiphyseal dysplasiaouvrier billson syndromeovarian insufficiency due to FSH resistanceoverfolded helixovergrowth radial ray defect arthrogryposisovergrowth syndrome type fryeroverhydrated hereditary stomatocytosisoxalosisoxalosis type 1oxalosis type 2oxoglutaricaciduriapachydermoperiostosispachygyria joint contractures facial abnormalitiespachygyria mental retardation epilepsypachyonychia congenitapachyonychia congenita jackson lawler typepacman syndrome

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paes whelan modi syndromepaget disease extramammarypaget disease juvenile typepagon bird detter syndromepagon stephan syndromepai levkoff syndromepai syndromepalant cleft palate syndromepallister hall syndromepallister killian syndromepallister w syndromepalmer pagon syndromepalmitoyl proteine thioesterase deficiencypalmoplantar porokeratosis of Mantouxpancreas agenesispancreatic carcinoma familialpancreatic hypoplasia diabetes heart diseasepancreatic lipomatosis duodenal stenosispancreatitis hereditarypancreatoblastomapancytopenia multiple congenital anomaliespanhypopituitarismpanostotic fibrous dysplasiapapilloma of choroid plexuspapillon lefevre syndromeparainfluenza virus type 3 antenatal infectionparamyotonia congenita of von eulenburgparana hard skin syndromeparaparesis amyotrophy of hands and feetparaplegia-brachydactyly-cone shaped epiphysisparaplegia-mental retardation-hyperkeratosisparastremmatic dwarfismparathyroid carcinomaparc syndromeparenti fraccaro type achondrogenesisparis-trousseau thrombopeniaparkes weber syndromeparkinson dementia steele typeparkinson disease (genetic types)parkinsonism early onset mental retardationparoxysmal nocturnal hemoglobinuriaparry romberg syndromepartial atrioventricular canalpartial deletion of ypartington anderson syndromepartington mulley syndromeparvovirus antenatal infectionpascuel castroviejo syndromepashayan syndromepasswell goodman ziprkowski syndromepatau syndromepatel bixler syndromepatella aplasia coxa vara tarsal synostosispatella hypoplasia mental retardationpatella hypoplasia skeletal malformationspatent ductus arteriosus familialpatterson lowry syndromepatterson pseudoleprechaunism syndromepatterson stevenson syndromepauciarticular chronic arthritispavone fiumara rizzo syndromepearson syndromepectus excavatum macrocephaly dysplastic nailspeho syndromepelizaeus merzbacher diseasepelizaeus merzbacher disease autosomal dominant or late onset typepelizaeus merzbacher disease recessive acute infantilepelizaeus merzbacher disease x linkedpellagra like syndrome

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pelvi shoulder dysplasiapelvic dysplasia arthrogryposis of lower limbspemphigus vulgaris familialpena shokeir syndrome type 1pena shokeir syndrome type 2penis agenesiapenoscrotal transpositionpentasomy xpentosuriapenttinen-aula syndromepepck deficiencypepck1 deficiencypepck2 deficiencypeptidic growth factors deficiencyperiarteritis nodosapericardial constriction growth failurepericardial defect diaphragmatic herniapericarditis arthropathy camptodactyly syndromepericardium absent mental retardation short staturepericardium congenital anomalyperiodic diseaseperiventricular nodular heterotopiaperlman syndromepernicious anemiaperniola krajewska carnevale syndromeperoneal atrophy parkinsonism ptosis strabismusperrault syndromepersistent mullerian duct syndromepertussispeters anomalypeters anomaly with short limb dwarfismpeters congenital glaucomapeters plus syndromepetit fryns syndromepetty laxova wiedemann syndromepeutz jeghers syndromepeyronie syndromepfeiffer cardiocranial syndromepfeiffer hirschfelder rott syndromepfeiffer kapferer syndromepfeiffer mayer syndromepfeiffer palm teller syndromepfeiffer rockelein syndromepfeiffer singer zschiesche syndromepfeiffer tietze welte syndromepfeiffer type acrocephalosyndactylyphacomatosis pigmentokeratoticaphacomatosis pigmentovascularisphaoke sharma agarawal syndromephaver syndromephenobarbital antenatal infectionphenobarbital embryopathyphenothiazine antenatal infectionphenylalanine hydroxylase deficiencyphenylketonuriaphenylketonuria type 2phenylketonuric embryopathypheochromocytomaphocomelia contractures absent thumbphocomelia ectrodactyly deafness sinus arrhythmiaphocomelia schinzel typephocomelia thrombocytopenia encephalocelephosphoenolpyruvate carboxykinase 1 deficiencyphosphoenolpyruvate carboxykinase 2 deficiencyphosphoenolpyruvate carboxykinase deficiencyphosphoethanolaminuriaphosphoglucomutase deficiencyphosphoglucomutase deficiency type 1phosphoglucomutase deficiency type 2

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phosphoglucomutase deficiency type 3phosphoglucomutase deficiency type 4phosphoglycerate kinase 1 deficiencyphosphomannoisomerase deficiencyphosphoribosylpyrophosphate synthetase deficiencyphytanic acid oxidase deficiencyphytosterolemiapibids syndromePicardi-Lassueur-Little syndromepick disease of brainpiebald trait neurologic defectspiebaldismpiepkorn karp hickoc syndromepierre marie cerbellar ataxiapierre robin sequence congenital heart defect talipespierre robin sequence faciodigital anomalypierre robin syndromepierre robin syndrome fetal chondrodysplasiapierre robin syndrome hyperphalangy clinodactylypierre robin syndrome oligodactylypierre robin syndrome skeletal dysplasia polydactylypigment anomaly ectrodactyly hypodontiapignata guarino syndromePili canulatiPili multigeminipili tortipili torti developmental delay neurological abnormalitiespili torti nerve deafnesspili torti onychodysplasiapillay syndromepilo dento ungular dysplasia microcephalypilodental dysplasia with refractive errorspilotto syndromepinheiro freire maia miranda syndromepinsky di george harley syndromepipecolic acidemiapitt hopkins syndromepitt williams brachydactylypitt-rogers-danks syndromepituitary dwarfismpityriasis rubra pilarispiussan lenaerts mathieu syndromeplagiocephaly x linked mental retardationplagueplasmalogenes synthesis deficiency isolatedplasminogen activator, tissue type, familial defective release ofplasminogen activitor inhibitor type 1 deficiencyplasminogen deficiencyplatyspondylic lethal chondrodysplasiaplatyspondyly amelogenesis imperfectaplott syndromeplum syndromePneumocystosispodder-tolmie syndromepoems syndromepoikiloderma atrophicans cataractpoikiloderma congenital with bullae weary typepoikiloderma hereditary acrokeratotic weary typepoikiloderma of Kindlerpoikiloderma of rothmund thomsonpoikilodermatomyositis mental retardationpoikilodermia alopecia retrognathism cleft palatepointer syndromepoland anomalypoliomyelitispolycystic kidney disease adult typepolycystic kidney disease dominant typepolycystic kidney disease infantile typepolycystic kidney disease recessive type

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polycystic kidney disease type 1polycystic kidney disease type 2polycystic kidney disease type 3polycystic liver diseasepolycystic ovarian disease, familialpolycystic ovaries urethral sphincter dysfunctionpolydactylypolydactyly alopecia seborrheic dermatitispolydactyly cleft lip palate psychomotor retardationpolydactyly cleft lip palate psychomotor retardationpolydactyly myopia syndromepolydactyly neonatal chondrodystrophypolydactyly postaxialpolydactyly postaxial dental and vertebralpolydactyly postaxial with median cleft of upper lippolydactyly preaxial type 1polydactyly syndrome middle ray duplicationpolydactyly visceral anomalies cleft lip palatepolymicrogyria turricephaly hypogenitalismpolymorphic catecholinergic ventricular tachycardiapolymyositispolyneuropathy hand defectpolyneuropathy hepatosplenomegaly hyperpigmentationpolyneuropathy mental retardation acromicria premature menopausepolyostotic fibrous dysplasiapolyposis hamartomatous intestinalpolyposis skin pigmentation alopecia fingernail changespolysyndactyly cardiac malformationpolysyndactyly microcephaly ptosispolysyndactyly orofacial anomaliespolysyndactyly overgrowth syndromepolysyndactyly trigonocephaly agenesis of corpus callosumpolysyndactyly type 4polysyndactyly type haaspompe diseaseponcet-spiegler's cylindromapopliteal pterygium syndromepopliteal pterygium syndrome lethal typeporencephaly cerebellar hypoplasia malformationsporokeratosis of Mibelliporokeratosis plantaris palmaris and disseminataporphyriaporphyria acute intermittentporphyria congenital erythropoietic (gunther disease)porphyria cutanea tarda familial typeporphyria cutanea tarda sporadic typeporphyria variegataport wine nevi mega cisterna magna hydrocephalusportal hypertension due to infrahepatic blockportal thrombosisportal vein thrombosisportuguese type amyloidosispositive rheumatoid factor polyarthritispost poliomyelitic syndromepostaxial polydactyly mental retardationposterior valve urethrapotassium aggravated myotoniapotter disease type 1potter disease type 3potter sequence cleft cardiopathypotter syndrome dominant typepowell buist stenzel syndromepowell chandra saal syndromepowell venencie gordon syndromeprader willi syndromeprata liberal goncalves syndromepreauricular pits renal diseasepreaxial deficiency postaxial polydactyly hypospadiaspreaxial polydactyly colobomata mental retardation

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precocious epileptic encephalopathyprecocious myoclonic encephalopathyprecocious puberty gonadotropin-dependantprecocious puberty idiopathic or tumoralprecocious puberty male limitedpreeyasombat viravithya syndromeprekallikrein deficiencypremature aging, okamoto typepremature atherosclerosis photomyoclonic epilepsy diabetes mellitus nephropathydegenerative neurologic diseasepremature menopause, familialprieto badia mulas syndromeprieur griscelli syndromeprimary biliary cirrhosisprimary ciliary dyskinesiaprimary lymphedemaprimary malignant lymphomaprimary pulmonar fibrosisprimary syringomyeliaprimary tubular proximal acidosisprimerose syndromeprimitive neuroectodermal tumorprimordial microcephalic dwarfism crachami typeprogeriaprogeria short stature pigmented neviprogeria variant syndrome ruvalcaba typeprogeroid syndrome de barsy typeprogeroid syndrome neonatalprogeroid syndrome petty typeprogeroid syndrome, penttinen typeprognathism dominantprogressive acromelanosisprogressive black carbon hyperpigmentation of infancyprogressive diaphyseal dysplasiaprogressive external ophtalmoplegiaprogressive hearing loss stapes fixationprogressive supranuclear palsy atypicalprogressive symmetrical erythrokeratodermaprolactinomaprolerating trichilemmal cystprolidase deficiencyproline oxydase deficiencyprominent glabella microcephaly hypogenitalismproperdin deficiencypropionic acidemiapropionic acidemia type 1propionic acidemia type 2propionyl coa carboxylase deficiencypropionyl coa carboxylase deficiency type 1propionyl coa carboxylase deficiency type 2propping zerres syndromeproptosis robin association overlapping fingers hypospadiasprosencephaly cerebellar dysgenesisprostaglandin antenatal infectionprostate cancer familialprotein c deficiencyprotein r deficiencyprotein s acquired deficiencyprotein s deficiencyproteus like syndrome mental retardation eye defectsproteus syndromeprothrombin deficiencyprotoporphyria erythropoieticproud levine carpenter syndromeproximal myotonic dystrophyproximal myotonic myopathyproximal spinal muscular atrophyproximal tubulopathy diabetes mellitus cerebellar ataxiaprune belly syndrome

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pseudo hurler polydystrophypseudo pelade of Brocqpseudo trisomy 13 syndromepseudo turner syndromepseudo zellweger syndromepseudoachondroplasiapseudoachondroplastic dysplasiapseudoachondroplastic dysplasia 1pseudoadrenoleukodystrophypseudoaminopterin syndromepseudohermaphrodism anorectal anomaliespseudohermaphroditism female skeletal anomaliespseudohermaphroditism male with gynecomastiapseudohermaphroditism mental retardationPseudohyperaldosteronismpseudohypoaldosteronism type 1pseudohypoaldosteronism type 2pseudohypoparathyroidismpseudomarfanismpseudomongolismpseudoobstruction idiopathic intestinalpseudopapilledema blepharophimosis hand anomaliespseudoprogeria syndromepseudotoxoplasmosis syndromepseudovaginal perineoscrotal hypospadiaspseudoxanthoma elasticumpseudoxanthoma elasticum dominant formpseudoxanthoma elasticum recessive formpterygia mental retardation facial dysmorphismpterygium colli mental retardation digital anomaliespterygium of the conjunctivapterygium syndrome antecubitalpterygium syndrome multiple dominant typepterygium syndrome x linkedptosis coloboma mental retardationptosis coloboma trigonocephalyptosis strabismus diastasisptosis strabismus ectopic pupilsptosis vocal cord paralysispulmonar arterioveinous aneurysmpulmonary agenesispulmonary alveolar proteinosis congenitalpulmonary aortic stenosis obstructive uropathypulmonary arterio-veinous fistulapulmonary artery agenesispulmonary artery coming from the aortapulmonary artery familial dilatationpulmonary atresia with ventricular septal defectpulmonary branches stenosispulmonary cystic lymphangiectasispulmonary hypertension primarypulmonary hypoplasia familial primarypulmonary sequestrationpulmonary stenosis cafe au lait spotspulmonary supravalvular stenosispulmonary surfactant protein b deficiency ofpulmonary valve stenosispulmonary valves agenesispulmonary veins stenosispulmonary venous return anomalypulmonaryatresia intact ventricular septumpunctate acrokeratoderma freckle like pigmentationpure macular dystrophyPuretic syndromepuretic syndromepurine nucleoside phosphorylase deficiencypurtilo syndromepycnodysostosispyknoachondrogenesis

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pyle diseasePyomyositispyramidal molar glaucoma upper abnormal lippyridoxine deficitpyrimidinemia familialpyroglutamicaciduriapyropoikilocytosispyruvate carboxylase deficiencypyruvate decarboxylase deficiencypyruvate dehydrogenase deficiencypyruvate kinase deficiencypyruvate kinase deficiency liver typepyruvate kinase deficiency muscle typeqazi markouizos syndromequattrin mcpherson syndromeQuinquaud's decalvans folliculitisQuinquaud's decalvans folliculitisrabiesrabson mendenhall syndromeradial defect robin sequenceradial deficiency tibial hypoplasiaradial hypoplasia triphalangeal thumbs hypospadias maxillary diastemaradial ray agenesisradial ray hypoplasia choanal atresiaradiculomegaly of canine teeth congenital cataractsradio digito facial dysplasiaradio renal syndromeradio-ulnar synostosisradioulnar synostosis mental retardation hypotoniaradioulnar synostosis retinal pigment abnormalitiesradius absent anogenital anomaliesraine syndromerambam hasharon syndromerambaud galian syndromeramer ladda syndromeramon syndromeramos arroyo clark syndromeramsay hunt syndromerapadilino syndromerapp hodgkin syndromerasmussen johnsen thomsen syndromerasmussen subacute encephalitisray peterson scott syndromerayner lampert rennert syndromereardon hall slaney syndromereardon wilson cavanagh syndromerecurrent peripheral facial palsyred feverreductional transverse limb defectsrefetoff syndromeRefetoff syndromerefsum diseaserefsum disease infantile formreginato schiapachasse syndromereifenstein syndromereinhardt pfeiffer syndromerelapsing polychondritisrenal adysplasia dominant typerenal agenesisrenal agenesis meningomyelocele mullerian defectrenal caliceal diverticuli deafnessrenal carcinoma familialrenal dysplasia diffuse autosomal recessiverenal dysplasia diffuse cysticrenal dysplasia hepatic fibrosis dandy walkerrenal dysplasia limb defectsrenal dysplasia megalocystis sirenomeliarenal dysplasia mesomelia radiohumeral fusionrenal dysplasia retinal aplasia

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renal dysplasia retinal aplasiarenal genital middle ear anomaliesrenal hepatic pancreatic dysplasia dandy walker cystrenal tubular acidosis distalrenal tubular acidosis distal autosomal dominantrenal tubular acidosis distal autosomal recessiverenal tubular acidosis distal type 3renal tubular acidosis distal type 4renal tubular acidosis progressive nerve deafnessrendu osler weber diseaserenier gabreels jasper syndromerenoanogenital syndromerenotubular dysgenesisresistance to LHresistance to thyroid stimulating hormonerespiratory chain deficiency malformationsreticulosis familial histiocyticretinal degeneration nanophthalmos glaucomaretinal detachment occipital encephaloceleretinal dysplasia x linkedretinal telangiectasia hypogammaglobulinemiaretinis pigmentosa deafness hypogenitalismretinis pigmentosa-deafnessretinitis pigmentosaretinitis pigmentosa mental retardation deafnessretinoblastomaretinohepatoendocrinologic syndromeretinopathy anemia cns anomaliesretinopathy aplastic anaemia neurological abnormalitiesretinopathy pigmentary mental retardationretinopathy pigmentosaretinoschisis juvenileretinoschisis x linkedretraction syndromerett like syndromerett syndromerevesz debuse syndromereye syndromereynolds neri hermann syndromeReynolds syndromerhabdomyomatous dysplasia cardiopathy genital anomaliesrhabdomyosarcomarhabdomyosarcoma 1rhabdomyosarcoma 2rhabdomyosarcoma alveolarrhabdomyosarcoma embryonalrhizomelic dysplasia type patterson lowryrhizomelic pseudopolyarthritisrhizomelic syndromerhumatoid purpurarichards rundle syndromerichieri costa colletto otto syndromerichieri costa da silva syndromerichieri costa gorlin syndromerichieri costa guion almeida acrofacial dysostosisrichieri costa guion almeida cohen syndromerichieri costa guion almeida dwarfismrichieri costa guion almeida rodini syndromerichieri costa guion almeida syndromerichieri costa montagnoli syndromerichieri costa orquizas syndromerichieri costa silveira pereira syndromerickettsiosisrieger syndromeright atrium familial dilatationright ventricule hypoplasiarigid mask like face deafness polydactylyrigid spine syndromeriley day syndrome

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riley smith syndromering chromosome 17ringed hair diseaserippberger aase syndromeritscher schinzel syndromerivera perez salas syndromeroberts syndromerobin sequence oligodactylyrobinow like syndromerobinow sorauf syndromerobinow syndromerobinow syndrome recessive formrobinson miller bensimon syndromeRoch-Leri mesosomatous lipomatosisrod myopathyrodini richieri costa syndromerokitansky kuster hauser syndromerokitansky sequenceromano ward syndromerombo syndromerommen mueller sybert syndromerosenberg chutorian syndromerosenberg lohr syndromerotor syndromeroussy levy hereditary areflexic dystasiaroy maroteaux kremp syndromerozin hertz goodman syndromerubella virus antenatal infectionrubinstein taybi like syndromerubinstein taybi syndromerudd klimek syndromerudiger syndromeruiz rivas ramirez syndromerussell weaver bull syndromerutherfurd syndromerutledge friedman harrod syndromeruvalcaba churesigaew myhre syndromeruvalcaba myhre smith syndromeruvalcaba myhre syndromeruvalcaba syndromeruzicka goerz anton syndromesaal bulas syndromesaal greenstein syndromesabinas brittle hair syndromesaccharopine dehydrogenase deficiencysaccharopinuriasackey sakati aur syndromesacral agenesissacral defect anterior sacral meningocelesacral hemangiomas multiple congenital abnormalitiessacral meningocele conotrancal heart defectssacrococcygeal dysgenesis associationsaethre chotzen syndromesaito kuba tsuruta syndromesakati nyhan syndromesalcedo syndromesaldino mainzer syndromesaldino noonan maccreanor syndromesalla diseasesallis beighton syndromesalmonellosissalti salem syndromesammartino decreccio syndromesamson gardner syndromesamson viljoen syndromesanderson fraser syndromesandhaus ben ami syndromesandhoff diseasesandrow sullivan steel syndrome

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sanfilippo diseasesanfilippo syndrome type asanfilippo syndrome type bsanfilippo syndrome type csanfilippo syndrome type dsantavuori diseasesantavuori haltia diseasesantos mateus leal syndromesapho syndromesarcoidosissarcosin dehydrogenase complex deficiencysarcosinemiasatoyoshi syndromesaul wilkes stevenson syndromesay barber hobbs syndromesay barber miller syndromesay carpenter syndromesay field coldwell syndromesay meyer syndromesc phocomelia syndromescad deficiencyscalp defects postaxial polydactylyscalp ear nipple syndromescapuloiliac dysostosisscarf syndromeschaap taylor baraitser syndromeschaefer stein oshman syndromescheie syndromescheuermann juvenile kyphosis dominant formschiel stengel rutkowski syndromeschimke syndromeschindler diseaseschinzel acrocallosal syndromeschinzel giedion midface retraction syndromeschinzel syndromeschisis associationschistosomiasisschizencephalyschizophreniaschizophrenia mental retardation deafness retinitisschlegelberger grote syndromeschmidt syndromeschmitt gillenwater kelly syndromeschneckenbecken dysplasiaschofer beetz bohl syndromescholte begeer van essen syndromeschrander stumpel theunissen hulsmans syndromeschroer hammer mauldin syndromeschwannomatosisschwartz jampel syndromeschwartz newark syndromeschweitzer kemink malcolm syndromescimitar syndromescleroatonic myopathysclerocornea syndactyly ambiguous genitaliasclerodermasclerosing bone dysplasia mental retardationsclerosing cholangitissclerosteosisscoditti geminiani colonna syndromescoliosis with unilateral unsegmented barscot deficiencyscott bryant graham syndromescott syndromeseaver cassidy syndromesebocystomatosisseckel like syndrome majoor krakauer typeseckel like syndrome type buebelseckel syndrome

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sedaghatian chondrodysplasiaseemanova lesny syndromeseemanova syndrome type 2segawa syndromeseghers syndromesegmental vertebral anomaliesseizures benign familial neonatal recessive formseizures mental retardation hair dysplasiaselig benacerraf greene syndromesellars beighton syndromeseminomasemmerkrot haraldsson weenaes syndromesengers hamel otten syndromesenior syndromesensenbrenner syndromesensory and autonomic neuropathy type 4 hereditarysensory neuropathy deafness dementiasensory neuropathy type 1sensory radicular neuropathy recessive formsenter syndromeseow najjar syndromeseptooptic dysplasiaseptooptic dysplasia digital anomaliessequeiros sack syndromeseres santamaria arimany muniz syndromeserious digitalic intoxicationserpentine fibula polycystic kidneysserpentine fibula syndromesetleis syndromesevere combined immunodeficiency alymphocytotic typesevere combined immunodeficiency due to adenosine deaminase deficiencysevere combined immunodeficiency hla class 2-negativesezary's lymphomasezary's syndromesharma kapoor ramji syndromesharp syndromeshigellosisshith filkins syndromeshokeir syndromeshort broad great toe macrocraniumshort limb dwarf lethal colavita kozlowski typeshort limb dwarf lethal mcalister crane typeshort limb dwarf mental retardation myopiashort limb dwarf oedema iris colobomashort limb dwarfism al gazali typeshort limbs abnormal face congenital heart diseaseshort limbs subluxed knees cleft palateshort rib polydactyly syndromeshort rib polydactyly syndrome majewski typeshort rib polydactyly syndrome saldino noonan typeshort rib polydactyly syndrome verma naumoff typeshort rib syndrome beemer typeshort ribs craniosynostosis polysyndactylyshort stature abnormal skin pigmentation mental retardationshort stature brussels typeshort stature contractures hypotoniashort stature cranial hyperostosis hepatomegaly diabetesshort stature deafness neutrophil dysfunction dysmorphismshort stature dysmorphic face pelvic scapula dysplasiashort stature heart defect craniofacial anomaliesshort stature hyperkaliemia acidosisshort stature locking fingersshort stature mental retardation eye anomalies cleft lip palateshort stature mental retardation eye defects absent patellashort stature microcephaly heart defectshort stature microcephaly seizures deafnessshort stature monodactylous ectrodactyly cleft palateshort stature prognathism short femoral necksshort stature robin sequence cleft madible hand anomalies clubfoot

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short stature talipes natal teethshort stature valvular heart disease characteristic faciesshort stature webbed neck heart diseaseshort stature wormian bones dextrocardiashort syndromeshort tarsus absence of lower eyelashesshoulder and thorax deformity congenital heart diseaseshoulder and thorax deformity congenital heart diseaseshoulder girdle defect mental retardation familial typeshprintzen golberg craniosynostosisshprintzen omphalocele syndromeshulman syndromeshwachman-diamond syndromeshy drager syndromesialidosis type 1 and 2sialuria french typesickle cell anemiasickle cell anemiasideroblastic anemiasidransky feinstein goodman syndromesiegler brewer carey syndromesilengo lerone pelizzo syndromesillence syndromesilver russell dwarfismsilvery hair syndromesimosa penchaszadeh bustos syndromesimpson golabi behmel syndromesingh chhaparwal dhanda syndromesingle upper central incisorsingle ventriclesingle ventricule heartsino-auricular heart blocksinus node disease and myopiasipple syndromesirenomeliasitosterolemiasitus inversus viscerum cardiopathysitus inversus x linkedsjogren larsson like syndromesjogren larsson syndromesjogren syndromeskeletal dysplasia brachydactylyskeletal dysplasia epilepsy short statureskeletal dysplasia orofacial anomaliesskeletal dysplasia san diego typeskeleto cardiac syndrome with thrombocytopeniasketetal dysplasia coarse facies mental retardationSkin peeling syndromeslavotinek hurst syndromesly diseasesmall non cleaved cell lymphomasmall patella syndromesmith fineman myers syndromesmith lemli opitz syndromesmith lemli opitz syndrome type 1smith lemli opitz syndrome type 2smith magenis syndromesmith martin dodd syndromesneddon syndromesohval soffer syndromesomatostatinomasommer hines syndromesommer rathbun battles syndromesommer young wee frye syndromesondheimer syndromesonoda syndromesosby syndromesotos syndromesparse hair ptosis mental retardation

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spastic angina with healthy coronary arteryspastic ataxia charlevoix-saguenay typespastic diplegia infantile typespastic paraparesisspastic paraparesis deafnessspastic paraparesis, infantilespastic paraplegia epilepsy mental retardationspastic paraplegia facial cutaneous lesionsspastic paraplegia familialspastic paraplegia familial autosomal recessive formspastic paraplegia glaucoma precocious pubertyspastic paraplegia mental retardation corpus callosum thinspastic paraplegia nephritis deafnessspastic paraplegia neuropathy poikilodermaspastic paraplegia type 1 x linkedspastic paraplegia type 2 x linkedspastic paraplegia type 3 dominantspastic paraplegia type 4 dominantspastic paraplegia type 5a recessivespastic paraplegia type 5b recessivespastic paraplegia type 6 dominantspastic paraplegia-pigmentary abnormalitiesspastic paresis glaucoma mental retardationspastic quadriplegia retinitis pigmentosa mental retardationspasticity mental retardationspasticity multiple exostosesspatic paraparesis vitiligo premature grayingspellacy gibbs watts syndromespherocytosis hereditaryspherophakia brachymorphia syndromesphingomyelinase deficiencyspielmeyer vogt diseasespina bifidaspina bifida hypospadiasspinal and bulbar muscular atrophyspinal atrophy ophthalmoplegia pyramidal syndromespinal dysostosis type anhaltspinal muscular atrophy type 1spinal muscular atrophy type 2spinal muscular atrophy type 3spinal muscular atrophy type i with congenital bone fracturesspine rigid cardiomyopathyspinocerebellar ataxia 1spinocerebellar ataxia 2spinocerebellar ataxia 3spinocerebellar ataxia 4spinocerebellar ataxia 5spinocerebellar ataxia 6spinocerebellar ataxia 7spinocerebellar ataxia 8spinocerebellar ataxia amyotrophy deafnessspinocerebellar ataxia dysmorphismspinocerebellar atrophy type 3spinocerebellar degeneration corneal dystrophyspinocerebellar degenerescence book typesplenic agenesis syndromesplenogonadal fusion limb defects micrognatiasplit hand deformitysplit hand deformity mandibulofacial dysostosissplit hand split foot malformation autosomal recessive formsplit hand split foot mandibular hypoplasiasplit hand split foot nystagmussplit hand split foot x linkedsplit hand urinary anomalies spina bifidasponastrime dysplasiaspondylo camptodactyly syndromespondylo costal dysostosis dandy walkerspondylo metaphyseal dysplasia algerian typespondylo peripheral epiphyseal dysplasia

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spondylocarpotarsal synostosisspondylocostal dysostosisspondylocostal dysplasia dominantspondylodysplasia brachyolmiaspondyloenchondrodysplasiaspondyloendochromatosisspondyloepimetaphysal dysplasia shoat lachman typespondyloepimetaphyseal dysplasiaspondyloepimetaphyseal dysplasia joint laxityspondyloepimetaphyseal dysplasia leonard typespondyloepimetaphyseal dysplasia rao typespondyloepimetaphyseal dysplasia type cameraspondyloepiphyseal dysplasiaspondyloepiphyseal dysplasia congenital dominant typespondyloepiphyseal dysplasia macdermot typespondyloepiphyseal dysplasia nephrotic syndromespondyloepiphyseal dysplasia reardon typespondyloepiphyseal dysplasia stanescu typespondyloepiphyseal dysplasia tarda dysmorphic faciesspondyloepiphyseal dysplasia tarda mental retardationspondyloepiphyseal dysplasia tarda progressive arthropathyspondyloepiphyseal dysplasia tarda toledo typespondyloepiphyseal dysplasia with atlantoaxial instabilityspondyloepiphyseal dysplasia with instabilityspondylohumerofemoral hypoplasiaspondylohypoplasia arthrogryposis popliteal pterygiumspondylometa epiphyseal dysplasia borochowitz typespondylometaepiphyseal dysplasia congenita strudwick typespondylometaphyseal dysplasiaspondylometaphyseal dysplasia absent distal ulnaspondylometaphyseal dysplasia dentinogenesis imperfectaspondylometaphyseal dysplasia hunter typespondylometaphyseal dysplasia kozlowski typespondylometaphyseal dysplasia lethal advanced bonespondylometaphyseal dysplasia recessive formspondylometaphyseal dysplasia with abnormal dentitionspondylometaphyseal dysplasia with endochromatous changesspondylometaphyseal dysplasia with hypotrichosisspondyloperipheral dysplasia short ulnaspongy degeneration of central nervous systemspontaneous pneumothorax familial typeSporotrichosisspranger schinzel yers syndromesprengel deformitystalker chitayat syndromestampe sorensen syndromestanescu maroteaux syndromeSTAR protein deficiencystargardt diseasesteatocystoma multiplexsteatocystoma multiplex natal teethsteele richardson olszewski syndrome atypicalstein-leventhal syndromeSteinert diseasesteinert myotonic dystrophysteinfeld syndromesterility due to immotile flagellastern lubinsky durrie syndromesternal cleftsternal cyst vascular anomaliessternal malformation vascular dysplasia associationsteroid dehydrogenase deficiency dental anomaliessteroid sulfatase deficiencystickler syndromestickler syndrome type 1stickler syndrome type 2stiff baby syndromestiff man syndromestiff skin syndrome

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Still diseasestill juvenile type diseasestimmler syndromestoelinga de koomen davis syndromestoll alembik dott syndromestoll alembik finck syndromestoll geraudel chauvin syndromestoll kieny dott syndromestoll levy francfort syndromestorage pool platelet diseasestormorken sjaastad langslet syndromestratton garcia young syndromestratton parker syndromestriatal degeneration familialstriatonigral degeneration infantilestrumpell lorrain diseasestuart factor deficiencystuccokeratosissturge weber syndromestuve wiedemann dysplasiasubacute sclerosing panencephalitissubaortic stenosis short stature syndromesubcortical laminar heterotopiasubependymal nodular heterotopiasubpulmonary stenosissubvalvular aortic stenosissuccinate coenzyme q reductase deficiency ofsuccinic acidemiasuccinic acidemia lactic acidosis congenitalsuccinic semialdehyde dehydrogenase deficiencysuccinic semialdehyde deshydrogenase deficiencysuccinyl-coa acetoacetate transferase deficiencysugarman syndromesujansky leonard syndromesulfatidosis juvenile austin typesulfite and xanthine oxydase deficiencysulfite oxidase deficiencysummitt syndromesuprabulbar paresis congenitalsupranuclear palsy progressiveSusac syndromesussman kelly rosenbaum syndromesutherland haan syndromesweet syndromeswyer syndromesybert smith syndromesymmetrical thalamic calcificationssymphalangism brachydactylysymphalangism brachydactylysymphalangism brachydactyly craniosynostosissymphalangism cushing typesymphalangism distalsymphalangism familial proximalsymphalangism short stature accessory testissymphalangism with multiple anomalies of hands and feetsyncamptodactyly scoliosissyndactylysyndactyly between 4 and 5syndactyly cataract mental retardationsyndactyly cenani lenz typesyndactyly ectodermal dysplasia cleft lip palate hand footsyndactyly type 1 microcephaly mental retardationsyndactyly type 2syndactyly type 3syndactyly type 5syndactyly-polydactyly-ear lobe syndromesyngnathia cleft palatesyngnathia multiple anomaliessynostosis microcephaly scoliosis

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synostosis of talus and calcaneus short staturesynovialosarcomasynovitis acne pustulosis hyperostosis osteitis syndromesynovitis granulomatous uveitis cranial neuropathiessynpolydactylysynspondylismsyphilis embryopathySyringocystadenoma papilliferumsyringomas natal teeth oligodontiasyringomelia hyperkeratosissystemic arterio-veinous fistulasystemic lupus erythematosussystemic mastocytosissystemic polyarthritist cell immunodeficiency primaryt cell lymphomatabatznik syndrometachycardia hypertension microphthalmos hyperglycinuriataiga encephalitistajara pinheiro syndrometakayasu arteritistakayasu's diseasetamari goodman syndrometang hsi ryu syndrometangier diseasetap 2 deficiencytar syndrometardive dyskinesiaTarui diseasetau syndrometaurodontia absent teeth sparse hairtaurodontismtay sachs diseasetay syndrometaybi linder syndrometaybi syndrometeebi al saleh hassoon syndrometeebi kaurah syndrometeebi naguib alawadi syndrometeebi shaltout syndrometeebi syndrometeeth noneruption of with maxillary hypoplasia and genu valgumtel hashomer camptodactyly syndrometelangiectasia hemorrhagic familialtelecanthus associated abnormalitiestelecanthus hypertelorism pes cavustelfer sugar jaeger syndrometemporal arteritistemporomandibular ankylosistemtamy shalash syndrometer haar hamel hendricks syndrometer haar syndrometeratomaterminal transverse defects of armtesticular feminization syndrometesticular regression syndrometesticular regression syndrometetanustetraamelia ectodermal dysplasiatetraamelia multiple malformationstetraamelia pulmonary hypoplasiatetraamelia-syrinxtetralogy of fallottetraploidytetrasomy 12ptetrasomy 15qtetrasomy 18ptetrasomy 21qtetrasomy 5p

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tetrasomy 9ptetrasomy xthakker donnai syndromethalamic degeneration symmetrical infantilethalamic degenerescence infantilethanatophoric dwarfismthanatophoric dysplasiathanatophoric dysplasia cloverleaf skullthanatophoric dysplasia glasgow variantthanos stewart zonana syndrometheodor hertz goodman syndromethiele syndromethiemann epiphyseal diseasethies reis syndromethin ribs tubular bones dysmorphismthiolase deficiencythiopurine s methyltranferase deficiencythomas jewett raines syndromethomas syndromethombocytopenia X linkedthompson baraitser syndromethomsen diseasethong douglas ferrante syndromethoracic celosomiathoracic dysplasia hydrocephalus syndromethoracic pelvic phalangeal dystrophythoraco abdominal enteric duplicationthoraco limb dysplasia rivera typethoracoabdominal syndromethoracolaryngopelvic dysplasiathoracopelvic dysostosisThost-Unna palmoplantar keratodermathrombocythemia essentialthrombocytopathy asplenia miosisthrombocytopenia absent radius syndromethrombocytopenia absent ulnarthrombocytopenia cerebellar hypoplasia short staturethrombocytopenia chromosome breakagethrombocytopenia multiple congenital anomalythrombocytopenia robin sequencethrombocytopenic purpura autoimmunethrombomodulin anomalies familialthrombotic microangiopathy, familialthumb absence hypoplastic hallucesthumb absent short stature immune deficiencythumb deformity alopecia pigmentation anomalythumb stiff brachydactyly mental retardationthymic carcinomathymic renal anal lung dysplasiathymomathymus epithelial tumorthymus malignant tumorthyrocerebrorenal syndromethyroglossal tract cystthyroid carcinoma follicularthyroid carcinoma papillarythyroid hormone uesponsivenessthyroid hormonogenesis genetic defect in iibthyroid renal digital anomaliestibia absent polydactylytibia absent polydactyly arachnoid cysttibiae bowed radial anomalies osteopennia fracturestibial aplasia ectrodactylytibial aplasia ectrodactyly hydrocephalustibial hemimelia cleft lip palatetibial muscular dystrophy tardivetick-borne encephalitistollner horst manzke syndrometoluene antenatal infection

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toluene embryopathytomaculous neuropathytome brune fardeau syndrometoni debre fanconi maladietonoki ohura niikawa syndrometooth and nail syndrometoriello carey syndrometoriello higgins miller syndrometoriello lacassie droste syndrometoriello syndrometorres ayber syndrometorticollis keloids cryptorchidism renal dysplasiatosti misciali barbareschi syndrometourette syndrometownes brocks syndrometoxocariasistoxopachyoteose diaphysaire tibio peronieretoxoplasma fetal syndrometoxoplasmosisTPA, familial defective release oftracheal agenesistracheobronchomegalytracheobronchopathia osteoplasticatracheoesophageal fistula symphalangismtracheophageal fistula hypospadiastranebjaerg svejgaard syndrometranscobalamin 2 deficiencytransient neonatal arthrogryposistransverse limb deficiency hemangiomatreacher collins syndrometreft sanborn carey syndrometremor hereditary essentialtremor nystagmus duodenal ulcertrevor diseasetriatrial hearttrichinellosisTrichinosistricho dento osseous syndrome type 1tricho odonto onycho dermal syndrometricho odonto onychodysplasia syndactyly dominanttricho onychic dysplasiatricho onycho hypohidrotic dysplasiatricho retino dento digital syndrometricho-hepato-enterique syndrometrichodental syndrometrichodermal syndrome mental retardationtrichodermodysplasia dental alterationstrichodysplasia xerodermatrichoepithelioma multiple familialTrichofollicullomaTrichomalaciatrichomegaly cataract hereditary spherocytosistrichomegaly retina pigmentary degeneration dwarfismtrichoodontoonychial dysplasiatrichorhinophalangeal syndrometrichorhinophalangeal syndrome type 2Trichostasis spinulosatrichothiodystrophietrichothiodystrophy sun sensitivitytrichothiodystrophy with congenital ichtyosistrico oculo dermo vertebral syndrometricuspid atresiatricuspid dysplasiatrigonocephalytrigonocephaly bifid nose acral anomaliestrigonocephaly broad thumbstrigonocephaly ptosis colobomatrigonocephaly ptosis mental retardationtrigonocephaly short stature developmental delay

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trigonomacrocephaly tibial defect polydactylytrihydroxycholestanoylcoa oxidase isolated deficiencytrimethadione antenatal infectiontriopiatriose phosphate isomerase deficiencytriphalangeal thumb non opposabletriphalangeal thumb polysyndactyly syndrometriphalangeal thumbs brachyectrodactylytriphalangeal thumbs dislocation of patellatriphalangeal thumbs thrombocytopathy deafnesstriple a syndrometriploidytrismus pseudocamptodactyly syndrometrisomy 1 mosaicismtrisomy 10ptrisomy 10pter p13trisomy 10q partialtrisomy 11qtrisomy 11q23trisomy 12 mosaicismtrisomy 12ptrisomy 12qtrisomy 13trisomy 13ptrisomy 13qtrisomy 14 mosaicismtrisomy 14qproxtrisomy 14qtertrisomy 15 mosaicismtrisomy 15qtrisomy 16 mosaicismtrisomy 16ptrisomy 16qtrisomy 17 mosaicismtrisomy 17ptrisomy 17p11 2trisomy 17q22trisomy 18trisomy 18 mosaicismtrisomy 18ptrisomy 18qtrisomy 19qtrisomy 1p21 p32trisomy 1q32 qtertrisomy 1q42 11 q42 12trisomy 1q42 qtertrisomy 2 mosaicismtrisomy 20 mosaicismtrisomy 20ptrisomy 21trisomy 22trisomy 22q11 q13trisomy 2ptrisomy 2p13 p21trisomy 2pter p24trisomy 2qtrisomy 2q37trisomy 3 mosaicismtrisomy 3ptrisomy 3p25trisomy 3qtrisomy 3q13 2 q25trisomy 4ptrisomy 4qtrisomy 4q21trisomy 4q25 qtertrisomy 5ptrisomy 5pter p13 3trisomy 5q

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trisomy 6ptrisomy 6qtrisomy 7 mosaicismtrisomy 7ptrisomy 7p13 p12 2trisomy 7qtrisomy 8trisomy 8ptrisomy 8qtrisomy 9 mosaicismtrisomy 9p partialtrisomy 9q32trisomy xtrisomy xp3trisomy xpter xq13trisomy xqtrisomy xq25trochlear dysplasiatroncus arteriosus malformationtroyer syndrometrue hermaphrodism xxtrueb burg bottani syndrometsao ellingson syndrometsukahara azuno kajii syndrometsukahara kajii syndrometsukuhara syndrometuberculosistuberous sclerosistuberous sclerosis type 1tuberous sclerosis type 2tucker syndrometuffli laxova syndrometufted angiomatularaemiaTungiasistunglang savage bellman syndrometurcot syndrometurner kieser syndrometurner syndrometutuncuoglu syndrometyphoidtyrosine transaminase deficiencytyrosine-oxidase temporary deficiencytyrosinemiatyrosinemia type 1tyrosinemia type 2Udd tibial myopathyudp galactose-4-epimerase deficiencyuhl anomalyulbright hodes syndromeulerythema ophryogenesisUllrich diseaseulna and fibula absence of severe limb deficitulna hypoplasiaulna hypoplasia mental retardationulna metaphyseal dysplasia syndromeulnar hypoplasia lobster claw deformity of feetulnar mammary syndromeulnar mammary syndrome of pallisterumbilical cord ulceration intestinal atresiauncompable hair syndromeuniparental disomyuniparental disomy of 10uniparental disomy of 11uniparental disomy of 13uniparental disomy of 14uniparental disomy of 15uniparental disomy of 16uniparental disomy of 2

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uniparental disomy of 21uniparental disomy of 22uniparental disomy of 5uniparental disomy of 6uniparental disomy of 7uniparental disomy of 8uniparental disomy of 9unusual facies pectus carinatum joint laxityupington diseaseupper limb defect eye and ear abnormalitiesupper limb mesomelic dysplasiaupton young syndromeurachal cysturban rogers meyer syndromeurban schosser spohn syndromeurethral obstruction sequenceuridine monophosphate synthetase deficiencyurioste martinez frias syndromeurioste martinez frias syndromeurofacial syndromeurogenital adysplasiaurophathy distal obstructive polydactylyurticaria deafness amyloidosisurticaria pigmentosalyvagina absence ofvaginal atresiavagneur triolle ripert syndromevalproate syndromevalproic acid antenatal infectionvalvular dysplasia of the childvan allen myhre syndromevan bervliet syndromevan biervliet hendrickx van ertbruggen syndromevan de berghe dequeker syndromevan den bosch syndromevan den ende brunner syndromevan der woude syndromevan goethem syndromevan maldergem wetzburger verloes syndromevan regemorter pierquin vamos syndromevaradi papp syndromevaricella virus antenatal infectionvas deferens absencevas deferens congenital bilateral aplasia ofvascular disruption sequencevascular facial painvascular malpositionvasquez hurst sotos syndromevater associationvein of galen aneurysmvelo cardio facial syndromevelofacioskeletal syndromevelopharyngeal incompetencevenencie powell winkelmann syndromeventricular extrasystoles perodactyly robin sequenceventricular familial preexcitation syndromeventricular septal defectventriculo-arterial discordance, isolatedventruto digirolamo festa syndromeverloes bourguignon syndromeverloes david syndromeverloes gillerot fryns syndromeverloes van maldergem marneffe syndromeverloove vanhorick brubakk syndromeVerneuil diseaseverrucous nevusverrucous nevus acanthokeratolyticvertebral body fusion overgrowth

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vertebral fusion posterior lumbosacral blepharoptosisvestibulocochlear dysfunction progressive familial typeviljoen kallis voges syndromeviljoen smart syndromeviljoen winship syndromevipomaviral hemorragic fevervirilizing ovarian tumorvisceral myopathy familiail external ophthalmoplegiaviscero-atrial heterotaxiavitamin a embryopathyvitamin b12 responsive methylmalonic acidemiavitamin b12 responsive methylmalonic acidemia (cbl a)vitamin b12 responsive methylmalonic acidemia (cbl b)vitamin b12 responsive methylmalonic acidemia mutvitaminb12 responsive methylmalonicaciduriavitamin b12 responsive methylmalonicaciduria (cbl a)vitamin b12 responsive methylmalonicaciduria (cbl b)vitamin b12 responsive methylmalonicaciduria mutvitamind resistant rickets x linkedvitamin e familial isolated deficiency ofvitiligovitiligo mental retardation facial dysmorphism urethral duplicationvitiligo psychomotor retardation cleft palate facial dysmorphismvitreoretinal degenerationvitreoretinochoroidopathy dominantvlcad deficiencyvocal cord dysfunction familialvogt koyanagi harada diseasevohwinkel syndromevolcke soekarman syndromevon gierke diseasevon hippel lindau diseasevon recklinghausen diseasevon voss cherstvoy syndromevon willebrand disease dominant formvon willebrand disease, recessive formvsr syndromew syndromewaaler aarskog syndromewaardenburg shah syndromewaardenburg syndrome type 1waardenburg syndrome type 2waardenburg syndrome type 2awaardenburg syndrome type 2bwaardenburg syndrome type 3waardenburg syndrome type 4waardenburg type pierpontwagner diseasewagr syndromewalbaum titran durieux crepin syndromewalker dyson syndromewalker-warburg syndromewallis cremin beighton syndromewallis zieff goldblatt syndromewalt disney dwarfismwarburg sjo fledelius syndromewarburg thomsen syndromewarburton anyane yeboa syndromewarfarin antenatal infectionwarman mulliken hayward syndromewarman mulliken syndromewatson syndromeweaver johnson syndromeweaver like syndromeweaver syndromeweaver williams syndromeweber cockayne type epidermolysis bullosa simplexwebster deming syndrome

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wegener's granulomatosiswegmann jones smith syndromeweill marchesani syndromeweinstein kliman scully syndromeweismann netter syndromeweissenbacher zweymuller syndromeweleber hecht bigley syndromewellesley carmen french syndromewells jankovic syndromeWells syndromewerdnig hoffman diseasewerdnig hoffman type 1 bone fractureswermer syndromewerner syndromewest syndromewest syndrome x linkedwesterhof beemer cormane syndromewestphall diseasewhipple diseasewhitaker syndromewhite forelock with malformationswhite matter hypoplasia corpus callosum agenesia mental retardationwhooping coughwhyte murphy syndromewieacker syndromewieacker wolff syndromewiedemann beckwith syndromewiedemann grosse dibbern syndromewiedemann oldigs oppermann syndromewiedemann opitz syndromewiedemann rautenstrauch syndromewildervanck syndromewilkes stevenson syndromewilkie taylor scambler syndromewillebrand diseasewillems de vries syndromewilli prader syndromewilliams syndromewilms tumorwilms tumor and pseudohermaphroditismwilms tumor aniridiawilms tumour radial bilateral aplasiawilson diseasewilson turner syndromewinchester diseasewinkelman bethge pfeiffer syndromewinship ocular albinism (type 1b)winship viljoen leary syndromewinter harding hyde syndromewinter shortland temple syndromewisconsin syndromewiskott aldrich syndromewitkop ocular albinism (type 2)witkop syndromewl syndromewolcott rallison syndromewolf hirschhorn syndromewolff parkinson white syndromewolff zimmermann syndromewolfram syndromewolman diseasewoodhouse sakati syndromewoods black norbury syndromewoods leversha rogers syndromewoolly hair hypotrichosis everted lower lip outstanding earswoolly hair palmoplantar keratoderma cardiac anomalyWooly hair naevuswooly hair syndromeworster drought syndrome

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worth syndromewright dick syndromewrinkly skin syndromewriter's crampwt limb blood syndromex linked hypogonadism gynecomastia mental retardationx linked lymphoproliferative diseasex linked mental retardation craniofacial abn microcephaly clubx linked mental retardation de silva typex linked mental retardation hamel typex linked mental retardation hypotoniax linked mental retardation short stature obesityx linked mental retardation type brooksx linked mental retardation type gux linked mental retardation type martinezx linked mental retardation type raynaudx linked mental retardation type schutzx linked mental retardation type snyderx linked mental retardation type wittnerx linked severe combined immunodeficiency diseasexanthic urolithiasisxanthine oxydase deficiencyxanthinuriaxanthomatosis cerebrotendinousxeroderma pigmentosumxeroderma pigmentosum type 1xeroderma pigmentosum type 2xeroderma pigmentosum type 3xeroderma pigmentosum type 5xeroderma pigmentosum type 6xeroderma pigmentosum type 7xeroderma pigmentosum variant typexeroderma talipes enamel defectsxk aprosencephalyxy gonadal agenesis syndromexylitol dehydrogenase deficiencyyellow nail syndromeyim ebbin syndromeyolk sac tumoryorifuji okuno syndromeyoshimura-takeshita syndrome deyoung harper syndromeyoung hugues syndromeyoung maders syndromeyoung mc keever squier syndromeyoung simpson syndromeyoung syndromeyunis varon syndromezadik barak levin syndromezap 70 deficiencyzazam sheriff phillips syndromezellweger syndromezerres rietschel majewski syndromezeta-associated-protein 70 deficiencyzimmer phocomeliazimmer taub sova syndromezimmerman laband syndromezlotogora syndromezollinger ellison syndromezori stalker williams syndromezunich-kaye syndrome

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