P -Point mutation, or any insertion/deletion entirely inside one geneD -Deletion of a gene or genesC - Whole chromosome extra, missing, or both (see chromosomal aberrations)T -Trinucleotide repeat disorders: gene is extended in length

common disorders

SNo Disorder Mutation Chromosome1 22q11.2 deletion syndrome D 22q2 Angelman syndrome DCP 153 Canavan disease 17p4 Charcot–Marie–Tooth disease 5 Color blindness P X6 Cri du chat D 57 Cystic fibrosis P 7q8 Down syndrome C 219 Duchenne muscular dystrophy D Xp10 Haemochromatosis P 611 Haemophilia P X12 Klinefelter syndrome C X13 Neurofibromatosis 17q/22q/?14 Phenylketonuria P 12q15 Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)16 Prader–Willi syndrome DC 1517 Sickle-cell disease P 11p18 Tay–Sachs disease P 1519 Turner syndrome C X

Full list

SNo Disorder name Mutation type Chromosome1 1p36 deletion syndrome D 1p362 18p deletion syndrome D 18p3 21-hydroxylase deficiency 6p21.3

4 45,XTurner syndrome C X

5 47,XX,+21Down syndrome C 21

6 47,XXXtriple X syndrome C X

7 47,XXY C X

Klinefelter syndrome

8 47,XY,+21Down syndrome C 21

9 47,XYY syndrome C Y

10 5-ALA dehydratase-deficient porphyriaALA dehydratase deficiency

11 5-aminolaevulinic dehydratase deficiency porphyriaALA dehydratase deficiency

12 5p deletion syndromeCri du chat D 5p

13 5p- syndromeCri du chat D 5p

14 A-Tataxia telangiectasia

15 AATalpha 1-antitrypsin deficiency

16 Absence of vas deferenscongenital absence of the vas deferens

17 Absent vasacongenital absence of the vas deferens

18 aceruloplasminemia

19 ACG2achondrogenesis type II

20 ACHachondroplasia

21 Achondrogenesis type II 22 achondroplasia substitution 4p16.3

23 Acid beta-glucosidase deficiencyGaucher disease type 1

24 Acrocephalosyndactyly (Apert)Apert syndrome

25 acrocephalosyndactyly, type VPfeiffer syndrome

26 AcrocephalyApert syndrome

27 Acute cerebral Gaucher's diseaseGaucher disease type 2

28 acute intermittent porphyria

29 ACY2 deficiencyCanavan disease

30 ADAlzheimer's disease

31 Adelaide-type craniosynostosisMuenke syndrome

32 Adenomatous Polyposis Coli

familial adenomatous polyposis

33 Adenomatous Polyposis of the Colonfamilial adenomatous polyposis

34 ADPALA dehydratase deficiency

35 adenylosuccinate lyase deficiency

36 Adrenal gland disorders21-hydroxylase deficiency

37 Adrenogenital syndrome21-hydroxylase deficiency

38 Adrenoleukodystrophy

39 AIPacute intermittent porphyria

40 AISandrogen insensitivity syndrome

41 AKUalkaptonuria

42 ALA dehydratase porphyriaALA dehydratase deficiency

43 ALA-D porphyriaALA dehydratase deficiency

44 ALA dehydratase deficiency 45 Albinism

46 Alcaptonuriaalkaptonuria

47 Alexander disease 48 alkaptonuria

49 Alkaptonuric ochronosisalkaptonuria

50 alpha 1-antitrypsin deficiency

51 alpha-1 proteinase inhibitoralpha 1-antitrypsin deficiency 14q32.1

52 alpha-1 related emphysemaalpha 1-antitrypsin deficiency 14q32.1

53 Alpha-galactosidase A deficiencyFabry disease P Xq22.1

54 ALSamyotrophic lateral sclerosis

55 Alström syndrome

56 ALXAlexander disease

57 Alzheimer's disease 58 Amelogenesis imperfecta

59 Amino levulinic acid dehydratase deficiencyALA dehydratase deficiency

60 Aminoacylase 2 deficiencyCanavan disease

61 amyotrophic lateral sclerosis

62 Anderson-Fabry diseaseFabry disease P Xq22.1

63 androgen insensitivity syndrome 64 Anemia

65 Anemia, hereditary sideroblasticX-linked sideroblastic anemia X

66 Anemia, sex-linked hypochromic sideroblasticX-linked sideroblastic anemia X

67 Anemia, splenic, familialGaucher disease

68 Angelman syndrome

69 Angiokeratoma Corporis DiffusumFabry disease P Xq22.1

70 Angiokeratoma diffuseFabry disease

71 Angiomatosis retinaevon Hippel–Lindau disease

72 ANH1X-linked sideroblastic anemia X

73 APC resistance, Leiden typefactor V Leiden thrombophilia

74 Apert syndrome

75 AR deficiencyandrogen insensitivity syndrome

76 AR-CMT2Charcot-Marie-Tooth disease, type 2

77 ArachnodactylyMarfan syndrome

78 ARNSHLNonsyndromic deafness#autosomal recessive

79 Arthro-ophthalmopathy, hereditary progressiveStickler syndrome#COL2A1

80 Arthrochalasis multiplex congenitaEhlers–Danlos syndrome#arthrochalasia type

81 ASAngelman syndrome

82 Asp deficiencyCanavan disease

83 Aspa deficiencyCanavan disease

84 Aspartoacylase deficiencyCanavan disease

85 ataxia telangiectasia

86Autism-Dementia-Ataxia-Loss of Purposeful Hand UsesyndromeRett syndrome

87 autosomal dominant juvenile ALSamyotrophic lateral sclerosis, type 4

88 Autosomal dominant opitz G/BBB syndrome22q11.2 deletion syndrome D 22q

89 autosomal recessive form of juvenile ALS type 3Amyotrophic lateral sclerosis#type 2

90 Autosomal recessive nonsyndromic hearing lossNonsyndromic deafness#autosomal recessive

91Autosomal Recessive Sensorineural Hearing Impairment andGoiterPendred syndrome

92 AxDAlexander disease

93 Ayerza syndromeprimary pulmonary hypertension

94 B variant of the Hexosaminidase GM2 gangliosidosisSandhoff disease

95 BANFneurofibromatosis type II

96 Beare-Stevenson cutis gyrata syndrome 10q26

97 Benign paroxysmal peritonitisMediterranean fever, familial

98 Benjamin syndrome 99 beta-thalassemia

100 BH4 Deficiencytetrahydrobiopterin deficiency

101 Bilateral Acoustic Neurofibromatosisneurofibromatosis type II

102 biotinidase deficiency 103 bladder cancer

104 Bleeding disordersfactor V Leiden thrombophilia

105 Bloch-Sulzberger syndromeincontinentia pigmenti

106 Bloom syndrome 15q26.1107 Bone diseases

108 Bone marrow diseasesX-linked sideroblastic anemia

109 Bonnevie-Ullrich syndromeTurner syndrome

110 Bourneville disease

tuberous sclerosis

111 Bourneville phakomatosistuberous sclerosis

112 Brain diseasesprion disease

113 breast cancer 114 Birt–Hogg–Dubé syndrome 17

115 Brittle bone diseaseosteogenesis imperfecta

116 Broad Thumb-Hallux syndromeRubinstein-Taybi syndrome

117 Bronze Diabeteshemochromatosis

118 Bronzed cirrhosishemochromatosis

119 Bulbospinal muscular atrophy, X-linkedKennedy's disease

120 Burger-Grutz syndromelipoprotein lipase deficiency, familial

121 CADASIL syndrome P 3122 CGD Chronic granulomatous disorder 123 Campomelic dysplasia C 17q24.3-q25.1124 Canavan disease 125 Cancer

126 Cancer Family syndromehereditary nonpolyposis colorectal cancer

127 Cancer of breastbreast cancer

128 Cancer of the bladderbladder cancer

129 Carboxylase Deficiency, Multiple, Late-Onsetbiotinidase deficiency P 3

130 CardiomyopathyNoonan syndrome

131 Cat cry syndromeCri du chat

132 CAVDcongenital absence of the vas deferens

133 Caylor cardiofacial syndrome22q11.2 deletion syndrome D 22q

134 CBAVDcongenital absence of the vas deferens

135 CEPcongenital erythropoietic porphyria

Ceramide trihexosidase deficiency

136 Fabry disease X

137 Cerebelloretinal Angiomatosis, familialvon Hippel-Lindau disease P 3 (p26-p25)

138Cerebral arteriopathywith subcortical infarcts and leukoencephalopathyCADASIL syndrome

P 3

139Cerebral autosomal dominant ateriopathywith subcortical infarcts and leukoencephalopathyCADASIL syndrome

P 3

140 Cerebral sclerosistuberous sclerosis 9 (q34), 16 (p13.3)

141 Cerebroatrophic HyperammonemiaRett syndrome X

142 Cerebroside Lipidosis syndromeGaucher disease P 1(q21)

143 CFcystic fibrosis

D (most common);or substitution CFTR (7q31.2)

144 CHcongenital hypothyroidism

145 Charcot diseaseamyotrophic lateral sclerosis

146 Charcot-Marie-Tooth disease

147 Chondrodystrophiaachondroplasia

148 Chondrodystrophy syndromeachondroplasia

149 Chondrodystrophy with sensorineural deafnessotospondylomegaepiphyseal dysplasia

150 Chondrogenesis imperfectaachondrogenesis, type II

151 Choreoathetosis self-mutilation hyperuricemia syndromeLesch-Nyhan syndrome P X

152 Classic Galactosemiagalactosemia P 9 (p13)

153 Classical Ehlers–Danlos syndromeEhlers–Danlos syndrome#classical type

154 Classical Phenylketonuriaphenylketonuria

155 Cleft lip and palateStickler syndrome

156 Cloverleaf skull with thanatophoric dwarfismThanatophoric dysplasia#type 2

157 CLSCoffin-Lowry syndrome

158 CMTCharcot-Marie-Tooth disease

159 Cockayne syndrome 160 Coffin-Lowry syndrome 161 collagenopathy, types II and XI

162 Colon Cancer, familial Nonpolyposishereditary nonpolyposis colorectal cancer

163 Colon cancer, familialfamilial adenomatous polyposis

164 Colorectal cancer

165 Complete HPRT deficiencyLesch-Nyhan syndrome

166Complete hypoxanthine-guanine phosphoribosyltransferasedeficiencyLesch-Nyhan syndrome

167 Compression neuropathyhereditary neuropathy with liability to pressure palsies

168 Congenital adrenal hyperplasia21-hydroxylase deficiency

169 congenital bilateral absence of vas deferensCongenital absence of the vas deferens

170 Congenital erythropoietic porphyria 171 Congenital heart disease

172Congenital hypomyelinationCharcot-Marie-Tooth disease#Type 1Charcot-Marie-Tooth disease#Type 4

173 Congenital hypothyroidism

174 Congenital methemoglobinemiaMethemoglobinemia#Congenital methaemoglobinaemia

175 Congenital osteosclerosisachondroplasia

176 Congenital sideroblastic anaemiaX-linked sideroblastic anemia X

177 Connective tissue disease

178 Conotruncal anomaly face syndrome22q11.2 deletion syndrome D 22q

179 Cooley's Anemiabeta-thalassemia

180 Copper storage diseaseWilson's disease 13 (q14.3)

181 Copper transport diseaseMenkes disease

182 Coproporphyria, hereditaryhereditary coproporphyria

183 Coproporphyrinogen oxidase deficiencyhereditary coproporphyria

184 Cowden syndrome

185 CPO deficiencyhereditary coproporphyria

186 CPRO deficiencyhereditary coproporphyria

187 CPX deficiencyhereditary coproporphyria

188 Craniofacial dysarthrosisCrouzon syndrome

189 Craniofacial DysostosisCrouzon syndrome

190 Cretinismcongenital hypothyroidism

191 Creutzfeldt-Jakob diseaseprion disease

192 Cri du chat D 5p193 Crohn's disease, fibrostenosing P 16q12

194 Crouzon syndrome FGFR2 (10q25.3-q26)

195 Crouzon syndrome with acanthosis nigricansCrouzonodermoskeletal syndrome

196 Crouzonodermoskeletal syndrome

197CSCockayne syndromeCowden syndrome

198 Curschmann-Batten-Steinert syndromemyotonic dystrophy

199 cutis gyrata syndrome of Beare-StevensonBeare-Stevenson cutis gyrata syndrome

200 D-glycerate dehydrogenase deficiencyhyperoxaluria, primary

201 Dappled metaphysis syndromespondyloepimetaphyseal dysplasia, Strudwick type

202 DAT - Dementia Alzheimer's typeAlzheimer's disease

203 Genetic hypercalciuriaDent's disease Xp11.22

204 DBMDmuscular dystrophy, Duchenne and Becker types

205 Deafness with goiterPendred syndrome

206 Deafness-retinitis pigmentosa syndromeUsher syndrome

207 Deficiency disease, Phenylalanine Hydroxylasephenylketonuria P 12q

208 Degenerative nerve diseases de Grouchy syndrome 1

209 De Grouchy syndrome D 18p

210 Dejerine-Sottas syndromeCharcot-Marie-Tooth disease

211 Delta-aminolevulinate dehydratase deficiency porphyriaALA dehydratase deficiency

212 DementiaCADASIL syndrome

213 demyelinogenic leukodystrophyAlexander disease

214 Dermatosparactic type of Ehlers–Danlos syndromeEhlers–Danlos syndrome#dermatosparaxis type

215 DermatosparaxisEhlers–Danlos syndrome#dermatosparaxis type

216 developmental disabilities

217 dHMNAmyotrophic lateral sclerosis#type 4

218 DHMN-Vdistal spinal muscular atrophy, type V

219 DHTR deficiencyandrogen insensitivity syndrome X

220 Diffuse Globoid Body SclerosisKrabbe disease

221 Di George's syndrome D 22q

222 Dihydrotestosterone receptor deficiencyandrogen insensitivity syndrome X

223 distal spinal muscular atrophy, type V

224 DM1Myotonic dystrophy#type 1 T 19

225 DM2Myotonic dystrophy#type 2 T 3

226 Down syndrome 21

227 DSMAVdistal spinal muscular atrophy, type V

228 DSNCharcot-Marie-Tooth disease#type 4

229 DSSCharcot-Marie-Tooth disease, type 4

230 Duchenne/Becker muscular dystrophyMuscular dystrophy, Duchenne and Becker type

231 Dwarf, achondroplasticachondroplasia 3

232 Dwarf, thanatophoricthanatophoric dysplasia

233 Dwarfism Dwarfism-retinal atrophy-deafness syndrome

234 Cockayne syndrome

235 dysmyelinogenic leukodystrophyAlexander disease

236 Dystrophia myotonicamyotonic dystrophy T 19

237 dystrophia retinae pigmentosa-dysostosis syndromeUsher syndrome

238

Early-Onset familial alzheimer disease (EOFAD)Alzheimer disease#type 1Alzheimer disease#type 3Alzheimer disease#type 4

239 EDSEhlers–Danlos syndrome

240 Ehlers–Danlos syndrome

241 Ekman-Lobstein diseaseosteogenesis imperfecta

242 Entrapment neuropathyhereditary neuropathy with liability to pressure palsies

243 Epiloiatuberous sclerosis

244 EPPerythropoietic protoporphyria

245 Erythroblastic anemiabeta-thalassemia

246 Erythrohepatic protoporphyriaerythropoietic protoporphyria

247 Erythroid 5-aminolevulinate synthetase deficiencyX-linked sideroblastic anemia

248 Erythropoietic porphyriacongenital erythropoietic porphyria

249 erythropoietic protoporphyria

250 Erythropoietic uroporphyriacongenital erythropoietic porphyria

251Eye cancerretinoblastoma FA - Friedreich ataxiaFriedreich's ataxia

252 FAfanconi anemia

253 Fabry disease P Xq22.1254 Facial injuries and disorders 255 factor V Leiden thrombophilia

256 FALSamyotrophic lateral sclerosis

257 familial acoustic neuromaneurofibromatosis type II

258 familial adenomatous polyposis

259 familial Alzheimer disease (FAD)Alzheimer's disease

260 familial amyotrophic lateral sclerosisamyotrophic lateral sclerosis

261 familial dysautonomia

262 familial fat-induced hypertriglyceridemialipoprotein lipase deficiency, familial

263 familial hemochromatosishemochromatosis

264 familial LPL deficiencylipoprotein lipase deficiency, familial

265 familial nonpolyposis colon cancerhereditary nonpolyposis colorectal cancer

266 familial paroxysmal polyserositisMediterranean fever, familial

267 familial PCTporphyria cutanea tarda

268 familial pressure-sensitive neuropathyhereditary neuropathy with liability to pressure palsies

269 familial primary pulmonary hypertension (FPPH)primary pulmonary hypertension

270 Familial Turner syndromeNoonan syndrome

271 familial vascular leukoencephalopathyCADASIL syndrome

272 FAPfamilial adenomatous polyposis

273 FDfamilial dysautonomia

274 Female pseudo-Turner syndromeNoonan syndrome

275 Ferrochelatase deficiencyerythropoietic protoporphyria

276 ferroportin diseaseHaemochromatosis#type 4

277 FeverMediterranean fever, familial

278 FG syndrome

279 FGFR3-associated coronal synostosisMuenke syndrome

280 Fibrinoid degeneration of astrocytesAlexander disease

281 Fibrocystic disease of the pancreascystic fibrosis

FMF

282 Mediterranean fever, familial

283 Folling diseasephenylketonuria

284 fra(X) syndromefragile X syndrome Xq27.3

285 fragile X syndrome Xq27.3

286 Fragilitas ossiumosteogenesis imperfecta

287 FRAXA syndromefragile X syndrome Xq27.3

288 FRDAFriedreich's ataxia

289 Friedreich's ataxiaFriedreich's ataxia

290 Friedreich's ataxia

291 FXSfragile X syndrome Xq27.3

292 G6PD deficiency

293 Galactokinase deficiency diseasegalactosemia

294 Galactose-1-phosphate uridyl-transferase deficiency diseasegalactosemia

295 galactosemia

296 Galactosylceramidase deficiency diseaseKrabbe disease

297 Galactosylceramide lipidosisKrabbe disease

298 galactosylcerebrosidase deficiencyKrabbe disease

299 galactosylsphingosine lipidosisKrabbe disease

300 GALC deficiencyKrabbe disease

301 GALT deficiencygalactosemia

302 Gaucher disease

303 Gaucher-like diseasepseudo-Gaucher disease

304 GBA deficiencyGaucher disease type 1

305 GDGaucher's disease

306 Genetic brain disorders

307 genetic emphysemaalpha 1-antitrypsin deficiency

308 genetic hemochromatosishemochromatosis

309 Giant cell hepatitis, neonatalNeonatal hemochromatosis

310 GLA deficiencyFabry disease

311 Glioblastoma, retinalretinoblastoma

312 Glioma, retinalretinoblastoma

313 globoid cell leukodystrophy (GCL, GLD)Krabbe disease

314 globoid cell leukoencephalopathyKrabbe disease

315 Glucocerebrosidase deficiencyGaucher disease

316 GlucocerebrosidosisGaucher disease

317 Glucosyl cerebroside lipidosisGaucher disease

318 Glucosylceramidase deficiencyGaucher disease

319 Glucosylceramide beta-glucosidase deficiencyGaucher disease

320 Glucosylceramide lipidosisGaucher disease

321 Glyceric aciduriahyperoxaluria, primary

322 Glycine encephalopathyNonketotic hyperglycinemia

323 Glycolic aciduriahyperoxaluria, primary

324 GM2 gangliosidosis, type 1Tay-Sachs disease

325 Goiter-deafness syndromePendred syndrome

326 Graefe-Usher syndromeUsher syndrome

327 Gronblad-Strandberg syndromepseudoxanthoma elasticum

328 Guenther porphyriacongenital erythropoietic porphyria

329 Gunther diseasecongenital erythropoietic porphyria

330 Haemochromatosishemochromatosis

331 Hallgren syndromeUsher syndrome

332 Harlequin type ichthyosis

333 Hb S diseasesickle cell anemia

334 HCHhypochondroplasia

335 HCPhereditary coproporphyria

336 Head and brain malformations 337 Hearing disorders and deafness 338 Hearing problems in children

339 HEF2Ahemochromatosis#type 2

340 HEF2Bhemochromatosis#type 2

341 Hematoporphyriaporphyria

342 Heme synthetase deficiencyerythropoietic protoporphyria

343 Hemochromatoseshemochromatosis

344 hemochromatosis

345 hemoglobin M diseasemethemoglobinemia#beta-globin type

346 Hemoglobin S diseasesickle cell anemia

347 hemophilia

348 HEPhepatoerythropoietic porphyria

349 hepatic AGT deficiencyhyperoxaluria, primary

350 hepatoerythropoietic porphyria

351 Hepatolenticular degeneration syndromeWilson disease

352 Hereditary arthro-ophthalmopathyStickler syndrome

353 Hereditary coproporphyria P 3q12

354 Hereditary dystopic lipidosisFabry disease

355 Hereditary hemochromatosis (HHC)hemochromatosis

356 Hereditary hemorrhagic telangiectasia (HHT)

357 Hereditary Inclusion Body Myopathyskeletal muscle regeneration

358 Hereditary iron-loading anemiaX-linked sideroblastic anemia

359 Hereditary motor and sensory neuropathyCharcot-Marie-Tooth disease

360 Hereditary motor neuronopathyspinal muscular atrophy

361 Hereditary motor neuronopathy, type Vdistal spinal muscular atrophy, type V

362 Hereditary multiple exostoses

363 Hereditary nonpolyposis colorectal cancer

DNA mismatch repairdysfunctionusually in MSH2 andMLH1 genes

usually chromosomes2 and 3

364 Hereditary periodic fever syndromeMediterranean fever, familial

365 Hereditary Polyposis Colifamilial adenomatous polyposis

366 Hereditary pulmonary emphysemaalpha 1-antitrypsin deficiency

367 Hereditary resistance to activated protein Cfactor V Leiden thrombophilia

368 Hereditary sensory and autonomic neuropathy type IIIfamilial dysautonomia

369 Hereditary spastic paraplegiainfantile-onset ascending hereditary spastic paralysis

370 Hereditary spinal ataxiaFriedreich's ataxia

371 Hereditary spinal sclerosisFriedreich's ataxia

372 Herrick's anemiasickle cell anemia

373 Heterozygous OSMEDWeissenbacher-Zweymüller syndrome

374 Heterozygous otospondylomegaepiphyseal dysplasiaWeissenbacher-Zweymüller syndrome

375 HexA deficiencyTay-Sachs disease

376 Hexosaminidase A deficiencyTay-Sachs disease

377 Hexosaminidase alpha-subunit deficiency (variant B)Tay-Sachs disease

378 HFE-associated hemochromatosishemochromatosis

379 HGPSProgeria

380 Hippel-Lindau disease

von Hippel-Lindau disease

381 HLAHhemochromatosis

382 HMN Vdistal spinal muscular atrophy, type V

383 HMSNCharcot-Marie-Tooth disease

384 HNPCChereditary nonpolyposis colorectal cancer

385 HNPPhereditary neuropathy with liability to pressure palsies

386 homocystinuria

387 Homogentisic acid oxidase deficiencyalkaptonuria

388 Homogentisic aciduraalkaptonuria

389 Homozygous porphyria cutanea tardahepatoerythropoietic porphyria

390 HP1hyperoxaluria, primary

391 HP2hyperoxaluria, primary

392 HPAhyperphenylalaninemia

393HPRT - Hypoxanthine-guanine phosphoribosyltransferasedeficiencyLesch-Nyhan syndrome

394 HSAN type IIIfamilial dysautonomia

395 HSAN3familial dysautonomia

396 HSN-IIIfamilial dysautonomia

397 Human dermatosparaxisEhlers–Danlos syndrome#dermatosparaxis type

398 Huntington's disease T 4p16.3

399 Hutchinson-Gilford progeria syndromeprogeria

400Hyperandrogenism, nonclassic type, due to 21-hydroxylasedeficiency21-hydroxylase deficiency

401 Hyperchylomicronemia, familiallipoprotein lipase deficiency, familial

402 Hyperglycinemia with ketoacidosis and leukopeniapropionic acidemia

Hyperlipoproteinemia type I

403 lipoprotein lipase deficiency, familial

404 hyperoxaluria, primary

405 hyperphenylalaninaemiahyperphenylalaninemia

406 hyperphenylalaninemia

407 Hypochondrodysplasiahypochondroplasia

408 Hypochondrogenesis 409 Hypochondroplasia 4p16.3

410 Hypochromic anemiaX-linked sideroblastic anemia

411 Hypocupremia, congenitalMenkes disease

412 Hypoxanthine phosphoribosyltransferse (HPRT) deficiencyLesch-Nyhan syndrome

413 IAHSPinfantile-onset ascending hereditary spastic paralysis

414ICF syndromeImmunodeficiency, centromere instability and facialanomalies syndrome

20q11.2

415 Idiopathic hemochromatosishemochromatosis, type 3

416 Idiopathic neonatal hemochromatosishemochromatosis, neonatal

417 Idiopathic pulmonary hypertensionprimary pulmonary hypertension

418 Immune system disordersX-linked severe combined immunodeficiency

419 Incontinentia pigmenti P Xq28

420 Infantile cerebral Gaucher's diseaseGaucher disease type 2

421 Infantile Gaucher diseaseGaucher disease type 2

422 infantile-onset ascending hereditary spastic paralysis 423 Infertility

424 inherited emphysemaalpha 1-antitrypsin deficiency

425 Inherited human transmissible spongiform encephalopathiesprion disease

426 inherited tendency to pressure palsieshereditary neuropathy with liability to pressure palsies

427 Insley-Astley syndromeotospondylomegaepiphyseal dysplasia

428 Intermittent acute porphyria syndromeacute intermittent porphyria

429 Intestinal polyposis-cutaneous pigmentation syndromePeutz–Jeghers syndrome

430 IPincontinentia pigmenti

431 Iron storage disorderhemochromatosis

432 Isodicentric 15isodicentric 15 Inv dup 15q11-14

433 Isolated deafnessnonsyndromic deafness

434 Jackson-Weiss syndrome

435 JHHaemochromatosis#type 2

436 Joubert syndrome

437 JPLSJuvenile Primary Lateral Sclerosis ALS2

438 juvenile amyotrophic lateral sclerosisAmyotrophic lateral sclerosis#type 2

439 Juvenile gout, choreoathetosis, mental retardation syndromeLesch-Nyhan syndrome

440 juvenile hyperuricemia syndromeLesch-Nyhan syndrome

441 JWSJackson-Weiss syndrome

442 KDX-linked spinal-bulbar muscle atrophy

443 Kennedy diseaseX-linked spinal-bulbar muscle atrophy

444 Kennedy spinal and bulbar muscular atrophyX-linked spinal-bulbar muscle atrophy

445 Kerasin histiocytosisGaucher disease

446 Kerasin lipoidosisGaucher disease

447 Kerasin thesaurismosisGaucher disease

448 ketotic glycinemiapropionic acidemia

449 ketotic hyperglycinemiapropionic acidemia

450 Kidney diseaseshyperoxaluria, primary

451 Klinefelter syndrome

452 Klinefelter syndromeKlinefelter syndrome

453 Kniest dysplasia

454 Krabbe disease

455 Lacunar dementiaCADASIL syndrome

456 Langer-Saldino achondrogenesisachondrogenesis, type II

457 Langer-Saldino dysplasiaachondrogenesis, type II

458 Late-onset Alzheimer diseaseAlzheimer disease#type 2

459 Late-onset familial Alzheimer disease (AD2)Alzheimer disease#type 2

460 late-onset Krabbe disease (LOKD)Krabbe disease

461 Learning DisordersLearning disability

462 Lentiginosis, perioralPeutz-Jeghers syndrome

463 Lesch-Nyhan syndrome 464 Leukodystrophies

465 leukodystrophy with Rosenthal fibersAlexander disease

466 Leukodystrophy, spongiformCanavan disease

467 LFSLi-Fraumeni syndrome

468 Li-Fraumeni syndrome

469 Lipase D deficiencylipoprotein lipase deficiency, familial

470 LIPD deficiencylipoprotein lipase deficiency, familial

471 Lipidosis, cerebrosideGaucher disease

472 Lipidosis, ganglioside, infantileTay-Sachs disease

473 Lipoid histiocytosis (kerasin type)Gaucher disease

474 lipoprotein lipase deficiency, familial

475 Liver diseasesgalactosemia

476 Lou Gehrig diseaseamyotrophic lateral sclerosis

477 Louis-Bar syndromeataxia telangiectasia

478 Lynch syndromehereditary nonpolyposis colorectal cancer

479 Lysyl-hydroxylase deficiencyEhlers–Danlos syndrome#kyphoscoliosis type

480 Machado-Joseph diseaseSpinocerebellar ataxia#type 3

481 Male breast cancerbreast cancer

482 Male genital disorders

483 Male Turner syndromeNoonan syndrome

484 Malignant neoplasm of breastbreast cancer

485 malignant tumor of breastbreast cancer

486 Malignant tumor of urinary bladderbladder cancer

487 Mammary cancerbreast cancer

488 Marfan syndrome 15

489 Marker X syndromefragile X syndrome

490 Martin-Bell syndromefragile X syndrome

491 McCune–Albright syndrome 20 q13.2-13.3492 McLeod syndrome X493 MEDNIK D AP1S1

494 Mediterranean Anemiabeta-thalassemia

495 Mediterranean fever, familial

496 Mega-epiphyseal dwarfismotospondylomegaepiphyseal dysplasia

497 Menkea syndromeMenkes disease

498 Menkes disease

499 Mental retardation with osteocartilaginous abnormalitiesCoffin-Lowry syndrome

500 Metabolic disorders

501 Metatropic dwarfism, type IIKniest dysplasia

502 Metatropic dysplasia type IIKniest dysplasia

503 Methemoglobinemia#beta-globin type 504 methylmalonic acidemia

505 MFSMarfan syndrome

MHAM

506 Cowden syndrome

507 MKMenkes disease

508 Micro syndrome 2q21.3509 Microcephaly P 1q31 (ASPM)

510 MMAmethylmalonic acidemia

511 MNKMenkes disease

512 Monosomy 1p36 syndrome1p36 deletion syndrome D 1p36

513 monosomy XTurner syndrome

514 Motor neuron disease, amyotrophic lateral sclerosisamyotrophic lateral sclerosis

515 Movement disorders 516 Mowat-Wilson syndrome 517 Mucopolysaccharidosis (MPS I)

518 Mucoviscidosiscystic fibrosis

519 Muenke syndrome

520 Multi-Infarct dementiaCADASIL syndrome

521 Multiple carboxylase deficiency, late-onsetbiotinidase deficiency

522 Multiple hamartoma syndromeCowden syndrome

523 Multiple neurofibromatosisneurofibromatosis

524 Muscular dystrophy 525 Muscular dystrophy, Duchenne and Becker type

526 Myotonia atrophicamyotonic dystrophy

527 Myotonia dystrophicamyotonic dystrophy

528 myotonic dystrophy

529 Myxedema, congenitalcongenital hypothyroidism

530 Nance-Insley syndromeotospondylomegaepiphyseal dysplasia

531 Nance-Sweeney chondrodysplasiaotospondylomegaepiphyseal dysplasia

532 NBIA1pantothenate kinase-associated neurodegeneration

533 Neill-Dingwall syndromeCockayne syndrome

534 Neuroblastoma, retinalretinoblastoma

535 Neurodegeneration with brain iron accumulation type 1pantothenate kinase-associated neurodegeneration

536 Neurofibromatosis type I 17q11.2537 Neurofibromatosis type II 538 Neurologic diseases 539 Neuromuscular disorders

540 neuronopathy, distal hereditary motor, type VDistal spinal muscular atrophy#type V

541neuronopathy, distal hereditary motor, with pyramidalfeaturesAmyotrophic lateral sclerosis#type 4

542 Niemann-PickNiemann–Pick disease

NPA, NPB, NPC1, NPC2,Sphingomyelinphosphodiesterase 1

SMPD1

543 Noack syndromePfeiffer syndrome

544 Nonketotic hyperglycinemiaGlycine encephalopathy

545 Non-neuronopathic Gaucher diseaseGaucher disease type 1

546 Non-phenylketonuric hyperphenylalaninemiatetrahydrobiopterin deficiency

547 nonsyndromic deafness 548 Noonan syndrome

549 Norrbottnian Gaucher diseaseGaucher disease type 3

550 Ochronosisalkaptonuria

551 Ochronotic arthritisalkaptonuria

552 OIosteogenesis imperfecta

553 Osler-Weber-Rendu diseaseHereditary hemorrhagic telangiectasia

554 OSMEDotospondylomegaepiphyseal dysplasia

555 osteogenesis imperfecta

556 Osteopsathyrosisosteogenesis imperfecta

557 Osteosclerosis congenitaachondroplasia

558 Oto-spondylo-megaepiphyseal dysplasiaotospondylomegaepiphyseal dysplasia

559 otospondylomegaepiphyseal dysplasia

560 Oxalosishyperoxaluria, primary

561 Oxaluria, primaryhyperoxaluria, primary

562 pantothenate kinase-associated neurodegeneration 563 Patau Syndrome (Trisomy 13)

564 PBGD deficiencyacute intermittent porphyria

565 PCC deficiencypropionic acidemia

566 PCTporphyria cutanea tarda

567 PDMMyotonic dystrophy#type 2

568 Pendred syndrome

569 Periodic diseaseMediterranean fever, familial

570 Periodic peritonitisMediterranean fever, familial

571 Periorificial lentiginosis syndromePeutz-Jeghers syndrome

572 Peripheral nerve disordersfamilial dysautonomia

573 Peripheral neurofibromatosisneurofibromatosis type I

574 Peroneal muscular atrophyCharcot-Marie-Tooth disease

575 peroxisomal alanine:glyoxylate aminotransferase deficiencyhyperoxaluria, primary

576 Peutz-Jeghers syndrome 577 Pfeiffer syndrome

578 Phenylalanine hydroxylase deficiency diseasephenylketonuria

579 phenylketonuria

580 Pheochromocytomavon Hippel-Lindau disease

581 Pierre Robin syndrome with fetal chondrodysplasiaWeissenbacher-Zweymüller syndrome

582 Pigmentary cirrhosishemochromatosis

583 PJSPeutz-Jeghers syndrome

584 PKANpantothenate kinase-associated neurodegeneration

585 PKUphenylketonuria

586 PlumboporphyriaALA deficiency porphyria

587 PMACharcot-Marie-tooth disease

588 Polycystic kidney disease P 16 (PKD1) or 4(PKD2)

589 polyostotic fibrous dysplasiaMcCune–Albright syndrome 20 q13.2-13.3

590 polyposis colifamilial adenomatous polyposis

591 polyposis, hamartomatous intestinalPeutz-Jeghers syndrome

592 polyposis, intestinal, IIPeutz-Jeghers syndrome

593 polyps-and-spots syndromePeutz-Jeghers syndrome

594 Porphobilinogen synthase deficiencyALA deficiency porphyria

595 porphyria

596 porphyrin disorderporphyria

597 PPHprimary pulmonary hypertension

598 PPOX deficiencyvariegate porphyria

599 Prader-Labhart-Willi syndromePrader-Willi syndrome

600 Prader-Willi syndrome

601 presenile and senile dementiaAlzheimer's disease

602 primary hemochromatosishemochromatosis

603 primary hyperuricemia syndromeLesch-Nyhan syndrome

604 primary pulmonary hypertension

605 primary senile degenerative dementiaAlzheimer's disease

606 prion disease

607 procollagen type EDS VII, mutantEhlers–Danlos syndrome#arthrochalasia type

608 progeriaHutchinson Gilford Progeria Syndrome

609 Progeria-like syndromeCockayne syndrome

610 progeroid nanismCockayne syndrome

611 progressive chorea, chronic hereditary (Huntington)Huntington's disease

612 progressive muscular atrophyspinal muscular atrophy

613progressively deforming osteogenesis imperfecta withnormal scleraeOsteogenesis imperfecta#Type III

614 PROMMMyotonic dystrophy#type 2

615 propionic acidemia

616 propionyl-CoA carboxylase deficiencypropionic acidemia

617 protein C deficiency 618 protein S deficiency

619 protoporphyriaerythropoietic protoporphyria

620 protoporphyrinogen oxidase deficiencyvariegate porphyria

621 proximal myotonic dystrophyMyotonic dystrophy#type 2

622 proximal myotonic myopathyMyotonic dystrophy#type 2

623 pseudo-Gaucher disease

624 pseudo-Ullrich-Turner syndromeNoonan syndrome

625 pseudoxanthoma elasticum

626 psychosine lipidosisKrabbe disease

627 pulmonary arterial hypertensionprimary pulmonary hypertension

628 pulmonary hypertensionprimary pulmonary hypertension

629 PWSPrader-Willi syndrome

630 PXE - pseudoxanthoma elasticumpseudoxanthoma elasticum

631 Rbretinoblastoma

632 Recklinghausen disease, nerveneurofibromatosis type I

633 Recurrent polyserositis

Mediterranean fever, familial634 Retinal disorders

635 Retinitis pigmentosa-deafness syndromeUsher syndrome

636 Retinoblastoma 637 Rett syndrome

638 RFALS type 3Amyotrophic lateral sclerosis#type 2

639 Ricker syndromeMyotonic dystrophy#type 2

640 Riley-Day syndromefamilial dysautonomia

641 Roussy-Levy syndromeCharcot-Marie-Tooth disease

642 RSTSRubinstein-Taybi syndrome

643RTSRett syndromeRubinstein-Taybi syndrome

644 RTTRett syndrome

645 Rubinstein-Taybi syndrome

646 Sack-Barabas syndromeEhlers–Danlos syndrome, vascular type

647 SADDAN

648 sarcoma family syndrome of Li and FraumeniLi-Fraumeni syndrome

649sarcoma, breast, leukemia, and adrenal gland (SBLA)syndromeLi-Fraumeni syndrome

650 SBLA syndromeLi-Fraumeni syndrome

651 SBMAX-linked spinal-bulbar muscle atrophy

652 SCDsickle cell anemia

653 Schwannoma, acoustic, bilateralneurofibromatosis type II

654 Schwartz–Jampel syndrome

655 SCIDX1X-linked severe combined immunodeficiency

656 sclerosis tuberosatuberous sclerosis

657 SDATAlzheimer's disease

658 SED congenitaspondyloepiphyseal dysplasia congenita

659 SED Strudwickspondyloepimetaphyseal dysplasia, Strudwick type

660 SEDcspondyloepiphyseal dysplasia congenita

661 SEMD, Strudwick typespondyloepimetaphyseal dysplasia, Strudwick type

662 senile dementiaAlzheimer disease#type 2

663severe achondroplasia with developmental delay andacanthosis nigricansSADDAN

664 Shprintzen syndrome22q11.2 deletion syndrome D 22q

665 sickle cell anemia D 18q666 Siderius X-linked mental retardation syndrome PD Xp11.22

667 skeleton-skin-brain syndromeSADDAN

668 Skin pigmentation disorders

669 SMAspinal muscular atrophy

670 SMED, Strudwick typespondyloepimetaphyseal dysplasia, Strudwick type

671 SMED, type Ispondyloepimetaphyseal dysplasia, Strudwick type

672 Smith-Lemli-Opitz syndrome 673 Smith Magenis Syndrome

674 South-African genetic porphyriavariegate porphyria

675 spastic paralysis, infantile onset ascendinginfantile-onset ascending hereditary spastic paralysis

676 Speech and communication disorders

677 sphingolipidosis, Tay-SachsTay-Sachs disease

678 spinal-bulbar muscular atrophy 679 spinal muscular atrophy

680 spinal muscular atrophy, distal type VDistal spinal muscular atrophy#type V

681spinal muscular atrophy, distal, with upper limbpredominanceDistal spinal muscular atrophy#type V

682 spinocerebellar ataxia 683 spondyloepimetaphyseal dysplasia, Strudwick type 684 spondyloepiphyseal dysplasia congenita

685 spondyloepiphyseal dysplasiacollagenopathy, types II and XI

686spondylometaepiphyseal dysplasia congenita, Strudwicktypespondyloepimetaphyseal dysplasia, Strudwick type

687 spondylometaphyseal dysplasia (SMD)spondyloepimetaphyseal dysplasia, Strudwick type

688 spondylometaphyseal dysplasia, Strudwick typespondyloepimetaphyseal dysplasia, Strudwick type

689 spongy degeneration of central nervous systemCanavan disease

690 spongy degeneration of the brainCanavan disease

691 spongy degeneration of white matter in infancyCanavan disease

692 sporadic primary pulmonary hypertensionprimary pulmonary hypertension

693 SSB syndromeSADDAN

694 steely hair syndromeMenkes disease

695 Steinert diseasemyotonic dystrophy

696 Steinert myotonic dystrophy syndromemyotonic dystrophy

697 Stickler syndrome

698 strokeCADASIL syndrome

699 Strudwick syndromespondyloepimetaphyseal dysplasia, Strudwick type

700 subacute neuronopathic Gaucher diseaseGaucher disease type 3

701 Swedish genetic porphyriaacute intermittent porphyria

702 Swedish porphyriaacute intermittent porphyria

703 Swiss cheese cartilage dysplasiaKniest dysplasia

704 Tay-Sachs disease

705 TD - thanatophoric dwarfismthanatophoric dysplasia

706 TD with straight femurs and cloverleaf skullthanatophoric dysplasia#Type 2

707 Telangiectasia, cerebello-oculocutaneousataxia telangiectasia

Testicular feminization syndrome

708 androgen insensitivity syndrome

709 tetrahydrobiopterin deficiency

710 TFM - testicular feminization syndromeandrogen insensitivity syndrome

711 thalassemia intermediabeta-thalassemia

712 Thalassemia Majorbeta-thalassemia

713 thanatophoric dysplasia

714Thrombophilia due to deficiency of cofactor for activatedprotein C, Leiden typefactor V Leiden thrombophilia

715 Thyroid disease

716 Tomaculous neuropathyhereditary neuropathy with liability to pressure palsies

717 Total HPRT deficiencyLesch-Nyhan syndrome

718Total hypoxanthine-guanine phosphoribosyl transferasedeficiencyLesch-Nyhan syndrome

719 Transmissible dementiasprion disease

720 Transmissible spongiform encephalopathiesprion disease

721 Treacher Collins syndrome 5q32-q33.1

722 Trias fragilitis ossiumosteogenesis imperfecta#Type I

723 triple X syndrome

724 Triplo X syndrometriple X syndrome

725 Trisomy 21Down syndrome

726 Trisomy Xtriple X syndrome

727 Troisier-Hanot-Chauffard syndromehemochromatosis

728 TSTurner syndrome

729 TSDTay-Sachs disease

730 TSEsprion disease

731 tuberose sclerosistuberous sclerosis

732 tuberous sclerosis

733 Turner syndrome

734 Turner syndrome in female with X chromosomeNoonan syndrome

735 Turner's phenotype, karyotype normalNoonan syndrome

736 Turner's syndromeTurner syndrome

737 Turner-like syndromeNoonan syndrome

738 Type 2 Gaucher diseaseGaucher disease type 2

739 Type 3 Gaucher diseaseGaucher disease type 3

740 UDP-galactose-4-epimerase deficiency diseasegalactosemia

741 UDP glucose 4-epimerase deficiency diseasegalactosemia

742UDP glucose hexose-1-phosphate uridylyltransferasedeficiencygalactosemia

743 Ullrich-Noonan syndromeNoonan syndrome

744 Ullrich-Turner syndromeTurner syndrome

745 Undifferentiated deafnessnonsyndromic deafness

746 UPS deficiencyacute intermittent porphyria

747 Urinary bladder cancerbladder cancer

748 UROD deficiencyporphyria cutanea tarda

749 Uroporphyrinogen decarboxylase deficiencyporphyria cutanea tarda

750 Uroporphyrinogen synthase deficiencyacute intermittent porphyria

751 UROS deficiencycongenital erythropoietic porphyria

752 Usher syndrome

753 UTP hexose-1-phosphate uridylyltransferase deficiencygalactosemia

754 Van Bogaert-Bertrand syndromeCanavan disease

755 Van der Hoeve syndromeosteogenesis imperfecta#Type I

756 variegate porphyria

757 Velocardiofacial syndrome22q11.2 deletion syndrome D 22q

758 VHL syndromevon Hippel-Lindau disease

759 Vision impairment and blindnessAlström syndrome

760 Von Bogaert-Bertrand diseaseCanavan disease

761 von Hippel-Lindau disease

762 Von Recklenhausen-Applebaum diseasehemochromatosis

763 von Recklinghausen diseaseneurofibromatosis type I

764 VPvariegate porphyria

765 Vrolik diseaseosteogenesis imperfecta

766 Waardenburg syndrome

767 Warburg Sjo Fledelius SyndromeMicro syndrome 2q21.3

768 WDWilson disease

769 Weissenbacher-Zweymüller syndrome 770 Williams Syndrome 771 Wilson disease

772 Wilson's diseaseWilson disease

773 Wolf–Hirschhorn syndrome D 4p

774 Wolff Periodic diseaseMediterranean fever, familial

775 WZSWeissenbacher-Zweymüller syndrome

776 Xeroderma pigmentosum ERCC4 15

777 X-linked mental retardation and macroorchidismfragile X syndrome

778 X-linked primary hyperuricemiaLesch-Nyhan syndrome

779 X-linked severe combined immunodeficiency 780 X-linked sideroblastic anemia

781 X-linked spinal-bulbar muscle atrophyKennedy's disease

782 X-linked uric aciduria enzyme defectLesch-Nyhan syndrome

783 X-SCIDX-linked severe combined immunodeficiency

784 XLSAX-linked sideroblastic anemia

785 XSCIDX-linked severe combined immunodeficiency

786 XXX syndrometriple X syndrome

787 XXXX syndrome48, XXXX

788 XXXXX syndrome49, XXXXX

789 XXY syndromeKlinefelter syndrome

790 XXY trisomyKlinefelter syndrome

791 XYY karyotype47,XYY syndrome

792 XYY syndrome47,XYY syndrome

793 YY syndrome47,XYY syndrome

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Original source : en.wikipedia.org/wiki/List_of_genetic_disorders