centogene report: diagnosed cases of rare diseases at ...€¦ · 125851 maturity-onset diabetes of...

CENTOGENE Report :

D i a g n o s e d c a s e s o f r a re d i s e a s e s at C E N TO G E N E

January 2012 to June 2016

Elucidating the basis for the link between the clinical phenotype and genotype correlation, and the factors contributing to reveal disease frequency, provide new insights into the genetics, pathophysiology and therapeutic options available for rare diseases. Analyzing samples from over 100 countries worldwide allows us to understand ethnic differences that are important for a comprehensive test interpretation.

With the help of our unique, multi-ethnic CENTOGENE mutation database CentoMD® we are able to help you detecting the right genotype/phenotype correlation as well as provide differential diagnostic approaches.

At CENTOGENE we are committed to helping you with your medical needs.

We are pleased to present our analysis from January 2012 to June 2016 of diagnosed cases at CENTOGENE. In that period, CENTOGENE has confirmed more than 21,077 cases.

CENTOGENE’s American and European accreditations (CAP, CLIA and ISO) confirm our highest quality standards for diagnostic testing and medical reporting.

■ 501 – 2000

Samples

■ 101 – 500■ 51 – 100■ < 50

■ > 2000

June 2015 to May 2016

Our partners worldwide

CENTOGENE AGSchillingallee 6818057 Rostock, Germanywww.centogene.com

Customer Service Phone: +49 (0)381 203 652- 222 Fax: +49 (0)381 203 652-119E-Mail: [email protected]

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CLIA #99D2049715

2

Confirmed cases/carriers by disease category

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

01. Metabolic disorders

TOTAL 8233

301500 Fabry Disease 2354

230800 Gaucher Disease 578

309900 Mucopolysaccharidosis II (Hunter syndrome) 565

232300 Glycogen storage disease II (Pompe) 377

257220 Niemann-Pick disease, type C1 198

253000 Mucopolysaccharidosis IVA 177

607015 Mucopolysaccharidosis Ih/s 163

219700 Cystic fibrosis 134

250100 Metachromatic leukodystrophy 122

253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 118

201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 117

245200 Krabbe disease 82

606054 Propionicacidemia 80

277900 Wilson disease 75

257200 Niemann-Pick disease, type A 74

252900 Mucopolysaccharidosis type IIIA (Sanfilippo A) 72

253260 Biotinidase deficiency 59

248600 Maple syrup urine disease, type Ia 59

230500 GM1-gangliosidosis, type I 52

268800 Sandhoff disease, infantile, juvenile, and adult forms 50

259900 Hyperoxaluria, primary, type 1 49

248600 Maple syrup urine disease, type Ib 48

201475 Very long Chain acyl-CoA dehydrogenase deficiency 46

219800 Cystinosis nephropathic 46

252920 Mucopolysaccharidosis type IIIB (Sanfilippo B) 46

266200 Pyruvate kinase deficiency 43

207900 Argininosuccinic aciduria 42

231680 Glutaric acidemia 42

232600 Glycogen storage disease type V/McArdle disease 40

251000 Methylmalonic aciduria, mut(0) type 39

204500 Ceroid lipofuscinosis, neuronal, 2 38

231670 Glutaricaciduria, type I 36

246900 Dihydrolipoamide dehydrogenase deficiency / MSUD III 36

272800 Tay-Sachs disease 34

261600 Phenylketonuria 34

252500 Mucolipidosis II alpha/beta 34

215700 Citrullinemia 34

201450 Medium chain acyl-CoA dehydrogenase deficiency 32

227650 Fanconi anemia, complementation group A 32

232400 Glycogen storage disease III 31


248600 Maple syrup urine disease, type II 30

249100 Familial Mediterranean fever, AR 29

277400 Methylmalonic aciduria and homocystinuria, cblC type 29

232200 Glycogen storage disease Ia 29

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

311250 Ornithine transcarbamylase deficiency 28

243500 Isovaleric acidemia 27

235200 Hemochromatosis 26

228000 Farber lipogranulomatosis 26

610921 Surfactant metabolsim dysfunction, pulmonary, 3 25

212140 Carnitine deficiency, systemic primary 25

276700 Tyrosinemia, type I 24

230400 Galactosemia 24

236792 L-2-hydroxyglutaric aciduria 24

609015 Trifunctional protein deficiency 23

143890 Hypercholesterolemia, familial 22

272200 Multiple sulfatase deficiency 22

232220 Glycogen storage disease Ib 22

253220 Mucopolysaccharidosis VII 21

218030 Apparent mineralocorticoid excess 21

601847 Cholestasis, progressive familial intrahepatic, 2 21

602347 Cholestasis, progressive familial intrahepatic, 3 21

237300 Carbamoylphosphate synthetase I deficiency 21

246450 HMG-CoA lyase deficiency 21

210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency 20

272300 Sulfite oxidase deficiency 20

261630 Hyperphenylalaninemia, BH4-deficient, C 19


224120 Anemia, congenital dyserythropoietic, type I 18

203400 Hypoaldosteronism, congenital, due to CMO I deficiency 18

614096 Combined oxidative phosphorylation deficiency 8 18

266150 Pyruvate carboxylase deficiency 18


607625 Niemann-pick disease, type C2 17

252930 Mucopolysaccharidosis type IIIC (Sanfilippo C) 17

255120 CPT deficiency, hepatic, type IA 16


212065 Congenital disorder of glycosylation, type Ia 15

229700 Fructose-1,6-bidphosphatase deficiency 15

176000 Porphyria, acute intermittent 15

256450 Hyperinsulinemic hypoglycemia, familial 1 15

306000 Glycogen storage disease, type IXa1/a2 15

227810 Fanconi-Bickel syndrome 14

613490 Alpha-1-antitrypsin deficiency 14

256550 Neuraminidase deficiency 14

230000 Fucosidosis 14

203750 Alpha-methylacetoacetic aciduria 14

615574 Asparagine synthetase deficiency 14

256540 Galactosialidosis 14

232500 Glycogen storage disease IV 13


304800 Diabetes insipidus, nephrogenic 13

3

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

606003 Transaldolase deficiency 13

612736 Guanidinoacetate methyltransferase deficiency 12

253010 Mucopolysaccharidosis type IVB (Morquio) 12

614576 Congenital disorder of glycosylation, type IIl 12

125851 Maturity-onset diabetes of the young, type 2 12

229600 Fructose intolerance 12

278000 Wolman disease 12

251110 Methylmalonic aciduria, cblB type 11

607616 Niemann-Pick disease, type B 11

261750 Glycogen storage disease IXb 10

610832 Fanconi anemia, complementation group N 10

609016 long-chain 3-hydroxyl-CoA dehydrogenase deficiency 10

614265 Combined malonic and methylmalonic aciduria 10

238600 Hyperlipoproteinemia, type 1 9

232700 Glycogen storage disease VI 9

245050 Succinyl CoA:3-oxoacid CoA transferase deficiency 9

224100 Anemia, dyserythropoietic congenital, type II 9

602390 Hemochromatosis, type 2A 9

614082 Fanconi anemia, complementation group G 9

614300 Hypermethioninemia due to adenosine kinase deficiency 9

241510 Hypophosphatasia, childhood 8

246200 Donohue syndrome 8

137920 Maturity-onset diabetes of the young type 5 8

125850 MODY, type I 8

248190 Hypomagnesemia 5, renal, with ocular involvement 8

252150 Molybdenum cofactor deficiency 8

248360 Malonyl-CoA decarboxylase deficiency 8

6147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

8

252940 Mucopolysaccharidosis type IIID 8

211600 Cholestasis, Progressive Familial Intrahepatic, 1 8

251100 Methylmalonic aciduria, cblA type 7

605724 Fanconi anemia, complementation group D1 7

600649 CPT deficiency, hepatic, type II 7


613646 Methylmalonic aciduria due to transcobalamin receptor defect 7

258900 Orotic aciduria 7

613280 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 7

146300 Hypophosphatasia, adult 7

275350 Transcobalamin II deficiency 7

250940 Homocystinuria-megaloblastic anemia, cblG complementation type 7


210900 Bloom syndrome 6

613489 Congenital disorder of glycosylation, type IIj 6

248500 Mannosidosis, alpha-, types I and II 6

612015 Congenital disorder of glycosylation, type 6

263700 Porphyria, congenital erythropoietic 6

252650 Mucolipidosis IV 6

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

222700 Lysinuric protein intolerance 6


136120 Fish-eye disease 6

610549 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 6

201810 3-beta-hydroxysteroid dehydrogenase, type II, deficiency 6



615317 Multiple mitochondrial dysfunctions syndrome 6

218800 Crigler-Najjar syndrome, type I 6

603147 Congenital disorder of glycosylation, type Ic 6

601110 Congenital disorder of glycosylation, type Id 6

300884 Congenital disorder of glycosylation, type Is 5

271980 Succinic semialdehyde dehydrogenase deficiency 5

262190 Rabson-Mendenhall syndrome 5

142680 Periodic fever, familial 5

601346 Martinez-Frias syndrome 5

204750 2-aminoadipic 2-oxoadipic aciduria 5

300559 Muscle glycogenosis 5

261680 Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency 5

609924 Aminoacylase 1 deficiency 5

603467 Fanconi anemia, complementation group F 5


614372 Mannose-Binding Protein Deficiency 5

608540 Congenital disorder of glycosylation, type Ik 5

614307 Alpha-methylacyl-CoA racemase deficiency 5

248250 Hypomagnesemia 3, renal 5

210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency 5

227646 Fanconi anemia, complementation group D2 5

227645 Fanconi anemia, complementation group C 5

600496 Maturity-onset diabetes of the young type 3 5

245349 Lacticacidemia due to PDX1 deficiency 5

261640 Hyperphenylalaninemia, BH4-deficient, A 4

220110 Mitochondrial complex IV deficiency 4

300352 Cerebral creatine deficiency syndrome 1 4

607398 Glucocorticoid deficiency 2 4

613027 Glycogen storage disease IXc 4

176200 Porphyria variegata 4

205400 Tangier disease 4

248510 Mannosidosis, Beta A, Lysosomal 4

252011 Mitochondrial complex II deficiency 4

611126 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of 4

609241 Schindler disease, type I, III 4


222900 Sucrase-isomaltase deficiency, congenital 4

609053 Fanconi anemia, complementation group I 4

300896 Congenital disorder of glycosylation, type IIm 4

312170 Pyruvate dehydrogenase E1-alpha deficiency 4

613327 Lipodystrophy, congenital generalized, type 4 4

4

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

614111 Pyruvate dehydrogenase E1-beta deficiency 4

613163 GABA-transaminase deficiency 4


602079 Trimethylaminuria 4

270450 Insulin-like growth factor I, resistance to 4

610600 Hypoaldosteronism, congenital, due to CMO II deficiency 4

275630 Chanarin-Dorfman syndrome 4

258501 3-methylglutaconic aciduria, type III 4

253270 Holocarboxylase synthetase deficiency 4

604250 Hemochromatosis, type 3 4

615512 Triosephosphate isomerase deficiency 3

601815 Phosphoglycerate dehydrogenase deficiency 3


606056 Congenital disorder of glycosylation, type IIb 3

226200 Enterokinase deficiency 3

607091 Congenital disorder of glycosylation, type IId 3

202010Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency

3

614083 Fanconi anemia, complementation group L 3

606176 Diabetes mellitus, permanent neonatal 3

614087 Fanconi anemia, complementation group M 3

222748 Dihydropyrimidinase deficiency 3


602579 Congenital disorder of glycosylation, type Ib 3


607143 Congenital disorder of glycosylation, type Ig 3

615596 Congenital disorder of glycosylation, type Iw 3

605814 Citrullinemia, type II, neonatal-onset 3

606392 Maturity-Onset Diabetes Of The Young, Type 4 3

125853 Diabetes mellitus, noninsulin-dependent / Diabetes mellitus, type II 3

609812 Maturity-onset diabetes of the young, type VIII 3

261650 PEPCK deficiency, mitochondrial 3


606069 Hemochromatosis, type 4 3

610015 Glutamine deficiency, congenital 3

274270 Dihydropyrimidine dehydrogenase deficiency 3

615157 Mitochondrial complex III deficiency, nuclear type 2 3

612874 Erythrocyte amp deaminase deficiency 3

307030 Glycerol kinase deficiency 3

613752Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

3

616095 Monocarboxylate transporter 1 deficiency 3

607765 Bile acid synthesis defect, congenital, 1 3

219500 Cystathioninuria 3

608104 Congenital disorder of glycosylation, type Ih 3

603471 Citrullinemia, Type Ii, Adult-Onset 3

103050 Adenylosuccinase deficiency 3

614921 Congenital disorder of glycosylation, type It 2

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

236270 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 2

263570 Polyglucosan body disease, adult form 2

609054 Fanconi anemia, complementation group J 2

614972 Cholestasis, intrahepatic, of pregnancy, 3 2

277410 Methylmalonic aciduria and homocystinuria, cblD type 2

614616 Diarrhea type 6 2

614857 Methylmalonic aciduria and homocystinuria, cblJ type 2

615182 Combined D-2- and L-2-hydroxyglutaric aciduria 2

608836 CPT II deficiency, lethal neonatal 2

603776 Hypercholesterolemia, Autosomal Dominant, 3 2


265120 Surfactant metabolism dysfunction, pulmonary, 1 2

208400 Aspartylglucosaminuria 2

234500 Hartnup disorder 2

606785 Crigler-Najjar syndrome, type II 2

606812 Fumarase deficiency 2

145980 Hypocalciuric hypercalcemia, type I 2

613313 Hemochromatosis, type 2B 2

146000 Hypochondroplasia 2

177000 Protoporphyria, erythropoietic, autosomal recessive 2

250800 NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY 2

245348 Pyruvate dehydrogenase E2 deficiency 2

612933 Glycogen storage disease XI 2

144010 Hypercholesterolemia, Autosomal Dominant, Type B 2

610508 Maturity-onset diabetes of the young, type VII 2

606394 Maturity-onset diabetes of the young 6 2

612379 Congenital disorder of glycosylation, type Iq 2

606762 Hyperinsulinemic Hypoglycemia, Familial, 6 2

601665 OBESITY 2

250950 3-methylglutaconic aciduria, type I 2

601410 Diabetes mellitus, transient neonatal, 1 2

612932 Glycogen storage disease XIII 2

613571Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency

1


601820 Hyperinsulinemic hypoglycemia, familial, 2 1

601492 Mucopolysaccharidosis type IX 1

300514 Fanconi anemia, complementation group B 1

203500 Alkaptonuria 1

266500 Refsum disease 1

261740 Glycogen storage disease of heart, lethal congenital 1

610003 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 1

125800 Diabetes Insipidus, Nephrogenic, Autosomal 1

611521 Tyrosine kinase 2 deficiency 1

608776 Congenital disorder of glycosylation, type Il 1

606391 maturity-onset diabetes of the young 1

252900 Mucopolysaccharidisis type IIIA (Sanfilippo A) 1

143880 Hypercalcemia, infantile 1

5

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

232800 Glycogen storage disease VII 1

300438 17-beta-hydroxysteroid dehydrogenase X deficiency 1

261670 Glycogen storage disease X 1

02. Neurological disorders

TOTAL 5083

613254 Tuberous sclerosis-2 131

253300 Spinal muscular atrophy-1 84

208900 Ataxia-telangiectasia 78

182601 Spastic paraplegia 4, autosomal dominant 73

310200 Duchenne muscular dystrophy 65

300100 Adrenoleukodystrophy 62

256000 Leigh syndrome 62

256030 Nemaline myopathy 2, autosomal recessive 59

108500 Episodic ataxia, type 2 58

604360 Spastic paraplegia 11, autosomal recessive 56

254090 Ullrich congenital muscular dystrophy 55

607855 Muscular dystrophy, congenital merosin-deficient 1A 50

255700 Myotonia congenita, recessive 50

610217 Neurodegeneration with brain iron accumulation 2B 48

607208 Dravet syndrome 48

191100 Tuberous sclerosis-1 45

610743 Spinocerebellar ataxia, autosomal recessive 8 45

252010 Mitochondrial complex I deficiency 43

600116 Parkinson disease, juvenile, type 2 41

117000 Central core disease 35

614615 Joubert syndrome 17 34

143100 Huntington disease 34

270550 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 34

266100 Epilepsy, pyridoxine-dependent 34

216550 Cohen syndrome 34

253601 Muscular dystrophy, limb-girdle, type 2B 33

608099 Muscular dystrophy, limb-girdle, type 2D 33

160900 Myotonic dystrophy 1 31


218340 Temtamy syndrome 29

610181 Aicardi-Goutieres syndrome 2 29

607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)

27

253600 Muscular dystrophy, limb-girdle, type 2A 27

607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 27

105210 Familial transthyretin amyloidosis 27


145600 Malignant hyperthermia susceptibility 1 27

603896 Leukoencephaly with vanishing white matter 27

604403 Epilepsy, generalized, with febrile seizures plus, type 2 27

221820 Hereditary diffuse leukoencephalopathy with spheroids 26

105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 26

256600 Infantile neuroaxonal dystrophy 1 26

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

237310 N-acetylglutamate synthase deficiency 1

545000Merrf Syndrome / Myoclonic epilepsy associated with ragged-red fibers

1

607906 Congenital disorder of glycosylation, type Ii 1

222745 2,4-Dienoyl-Coa Reductase 1 1

610768 Congenital disorder of glycosylation, type Im 1

238700 Hyperlysinemia 1

233690Chronic granulomatous disease, autosomal, due to deficiency of CYBA

1

219750 Cystinosis, ocular nonnephropathic 1

611881 Glycogen storage disease XII 1

276600 Tyrosinemia, type II 1

201470 Acyl-CoA dehydrogenase, short-chain, deficiency 1

609826 Hypophosphatemic rickets with hypercalciuria 1

266130 Glutathione synthetase deficiency 1

614962 Leptin deficiency 1

600901 Fanconi anemia, complementation group E 1

613951 Fanconi anemia, complementation group P 1

610198 3-methylglutaconic aciduria, type 5 1

252605 Mucolipidosis III gamma 1

614105 Methylmalonate semialdehyde dehydrogenase deficiency 1


200100 Abetalipoproteinemia 1

202110Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency

1

212138 Carnitine-acylcarnitine translocase deficiency 1

602485 Hyperinsulinemic hypoglycemia, familial, 3 1

214700 Diarrhea 1, secretory chloride, congenital 1

300770 Surfactant metabolism dysfunction, pulmonary, 4 1

516070Mitochondrial Complex V (ATP synthase) deficiency, mitochondrial type 2

1

231530 3-hydroxyacyl-CoA dehydrogenase deficiency 1

615084 Mitochondrial dna depletion syndrome 11 1

241500 Hypophosphatasia, infantile 1

245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)

1


616277 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 1


611182 Congenital disorder of glycosylation, type IIh 1


602014 Hypomagnesemia 1, intestinal 1

247100 Urbach-Wiethe disease 1

230350 Galactose epimerase deficiency 1

300934 Congenital disorder of glycosylation, type Iy 1

202200 Glucocorticoid Deficiency 1 1

606824 Glucose/galactose malabsorption 1

264300 Pseudohermaphroditism, male, with gynecomastia 1

6

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)

25

229300 Friedreich ataxia 25

158810 Bethlem myopathy 1 25

300624 Fragile X mental retardation syndrome 25

271900 Canavan disease 25

214100 Zellweger syndrome 24

209850 autism 24


602481 Migraine, familial hemiplegic, 2 23

300376 Becker muscular dystrophy 23

615286 Mental retardation, autosomal recessive 36 23

608033 Infection-induced acute encephalopathy-3 22

203700 Mitochondrial DNA depletion syndrome 4A (Alpers type) 21

604369 Salla disease 21



606658 Spinocerebellar ataxia 15 21

608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

21


609260 Charcot-Marie-Tooth disease, type 2A2 21

128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia

21

612953 Parkinson disease 14 20


614862 Peroxisome biogenesis disorder 4A (Zellweger) 20

613721 Epileptic encephalopathy, early infantile, 11 20

605407 Segawa syndrome, recessive 19

270200 Sjogren-Larsson syndrome 19

602629 Dystonia 6, torsion 19

118220 Charcot-Marie-Tooth disease, type 1A 19

203450 Alexander disease 19

128200 Episodic kinesigenic dyskinesia 1 19

159900 Dystonia, myoclonic 18

606002 Spinocerebellar ataxia 1, autosomal recessive 17

162500 Neuropathy, recurrent, with pressure palsies 17


601596 Charcot-Marie-Tooth disease, type 4C 17

602668 Myotonic dystrophy 2 16

604320 Spinal muscular atrophy, distal, autosomal recessive 1 16

604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 16


604004 Megalencephalic leukoencephalopathy with subcortical cysts 1 16

224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome

16


160800 Myotonia congenita, dominant 15

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL



213700 Cerebrotendinous xanthomatosis 15

606777 GLUT1 deficiency syndrome 1 15


614562 Mental retardation, autosomal dominant 12 15

149400 Hyperekplexia, hereditary 1, autosomal dominant or recessive 15

121200 Seizures, benign neonatal, 1 14



249900 Metachromatic leukodystrophy due to SAP-b deficiency 14

302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 14


254300 Myasthenic syndrome, congenital, 10 13

277470 Pontocerebellar hypoplasia type 2A 13

251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 13

613723 Muscular dystrophy, limb-girdle, type 2Q 13

170400 Hypokalemic periodic paralysis, type 1 13

104300 Alzheimer Disease 13



614895 Charcot-Marie-Tooth disease, type 4F 13

603034Endplate acetylcholinesterase deficiency / Congenital myasthenic syndrome type 1C

13

256800 Insensitivity to pain, congenital, with anhidrosis 13


602473 Ethylmalonic encephalopathy 13

615290 Spinal muscular atrophy, lower extremity-predominant, 2, AD 12



256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 12

256850 Giant axonal neuropathy-1 12


220111 Leigh syndrome, French-Canadian type 12


608807 Muscular dystrophy, limb-girdle, type 2J 11

270800 Spastic paraplegia 5A, autosomal recessive 11

604286 Muscular dystrophy, limb-girdle, type 2E 11


607459Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

11

607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

11

128100 Dystonia 1, torsion 11

614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism

11


303600 Coffin-Lowry syndrome 11


7

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

614298 Neurodegeneration with brain iron accumulation 4 10


312080 Pelizaeus-Merzbacher disease 10


605909 Parkinson disease 6, early onset 10

614876 Peroxisome biogenesis disorder 8A, (Zellweger) 10

255800 Schwartz-Jampel syndrome, type 1 10


607485Frontotemporal lobar degeneration with ubiquitin-positive inclusions

10

307000 Hydrocephalus, due to congenital stenosis of aqueduct of Sylvius 10


612233 Leukodystrophy, hypomyelinating, 4 10

158900 Facioscapulohumeral muscular dystrophy 1 10



613204 Muscular dystrophy, congenital, due to ITGA7 deficiency 9

164300 Oculopharyngeal muscular dystrophy 9


311200 Oral-facial-digital syndrome 1 9


300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 9



226670 Muscular dystrophy with epidermolysis bullosa simplex 9

182600 Spastic paraplegia 3A, autosomal dominant 9

214400 Charcot-Marie-Tooth disease, type 4A 9

300049 Heterotopia, periventricular / X-linked periventricular heterotopia 9

609311 Charcot-Marie-Tooth disease, type 4H 9

530000 Kearns-Sayre Syndrome 9

613287 Charcot-Marie-Tooth disease, axonal, type 2N 9

128235 Dystonia 12 9

245570Epilepsy, focal, with speech disorder and with or without mental retardation

9

612126 GLUT1 deficiency syndrome 2 9

208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

9

105400 Amyotrophic lateral sclerosis 1 9

309541Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )

8


609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 / Muscular dystrophy limb-girdle, type 2K

8

225753 Pontocerebellar hypoplasia type 4 8

612780Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance

8

300659 Mental retardation, X-linked 93 8

253700 Muscular dystrophy, limb-girdle, type 2C 8

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

157640 Progressive external ophthalmoplegia, autosomal dominant 8



300000 Opitz GBBB syndrome, X-linked 8

264470 Peroxisomal acyl-CoA oxidase deficiency 8




170500 Hyperkalemic periodic paralysis, type 2 8



614618 Hyperekplexia 3 8

300322 Lesch-Nyhan syndrome 8

608804Leukodystrophy, hypomyelinating, 2 /Pelizaeus-Merzbacher-like disease, 1

8

616155 Charcot-Marie-Tooth disease, axonal, type 2S 8

236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

7


253800Walker-Warburg syndrome / Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4

7

603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 7

611307 Muscular dystrophy, limb-girdle, type 2L 7





614678 Pontocerebellar hypoplasia, type 1B 7

253280Muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3

7

310400 Myotubular myopathy, X-linked 7


221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy / Nasu-Hakola disease

7

613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5

7

161800 Myopathy, nemaline, 3 7

614483 Porencephaly 2 7

611105Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

7

614228 Charcot-Marie-Tooth disease, axonal, type 20 7

118200 Charcot-Marie-Tooth disease, type 1B 7


601382 Charcot-Marie-Tooth disease, type 4B1 7

200150 Choreoacanthocytosis 7


169500 Leukodystrophy, adult-onset, autosomal dominant 7

8

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

615369 Epileptic encephalopathy, childhood-onset 7

118210 Charcot-Marie-Tooth disease, type 2A1 7

613205 Muscular dystrophy, congenital 6


609452 Myopathy, myofibrillar, 4 6


614879 Peroxisome biogenesis disorder 9B 6

300643Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked

6


223900 Neuropathy, hereditary sensory and autonomic, type III 6


255200 Myopathy, centronuclear 6



276880 Urocanase deficiency 6




205100 Amyotrophic lateral sclerosis 2, juvenile 6

300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia

6

254800 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 6

611942 Epilepsy, Childhood Absence, Susceptibility To, 6 6


613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A 6


607822 Alzheimer disease, type 3 6

218000 Agenesis of the corpus callosum with peripheral neuropathy 6

611277 Generalized Epilepsy With Febrile Seizures Plus, Type 3 6




616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency

5

613068 Neurodegeneration due to cerebral folate transport deficiency 5


168300 Paramyotonia congenita 5


254210 Myasthenic syndrome, congenital, associated with episodic apnea 5

601287 Muscular dystrophy, limb-girdle, type 2F 5


605355 Nemaline myopathy 5, Amish type 5

601462 Myasthenic syndrome, slow-channel congenital 5

300894 Neurodegeneration with brain iron accululation 5 5

194050 Williams-Beuren syndrome 5


Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

605751 Seizures, benign familial infantile, 2 5




614198 Myasthenic syndrome, acetazolamide-responsive 5

312870 Simpson-Golabi-Behmel syndrome, type 1 5


610687 Nemaline Myopathy 7 5


608840Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6

5


300534 Mental retardation, X-linked, syndromic, Claes-Jensen type 5



601455 Charcot-Marie-Tooth disease, type 4D 5


601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

5

216360 Coach syndrome 5

314250 Dystonia-Parkinsonism, X-linked 5

614820 Alternating hemiplegia of childhood 2 5

613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia

5

601472 Charcot-Marie-Tooth disease, type 2D 5

607628 Epilepsy, Idiopathic Generalized, Susceptibility To, 11 5

243000 Insensitivity to pain, channelopathy-associated 5

612199 Cerebroretinal microangiopathy with calcifications and cysts 5


607678 Charcot-Marie-Tooth Disease, Demyelinating, Type 1D 5

160120 Episodic ataxia/myokymia syndrome 5


615511 Myopathy due to myoadenylate deaminase deficiency 4


4

600229Spastic tetraplegia, thin corpus callosum and progressive microcephaly

4

608236 Slowed nerve conduction velocity, AD 4

277580 Waardenburg syndrome, type 4A 4

606612Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5

4



615530 Parkinson disease 20, early-onset 4

180860 Silver-Russell syndrome 4



606072 Rippling muscle disease 4

9

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

606324 Parkinson disease 7, autosomal recessive early-onset 4

611523 Pontocerebellar hypoplasia, type 6 4


302500 pinocerebellar ataxia, X-linked 1 4

255110 Myopathy due to CPT II deficiency 4



600334 Tibial muscular dystrophy, tardive 4

613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 4


4

255995 Native american myopathy 4



300354 Mental retardation, X-linked, syndromic 15 (Cabezas type) 4



118800 Paroxysmal nonkinesigenic dyskinesia 4



145900 Dejerine-Sottas disease 4

612999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 4

606889 Alzheimer disease, type 4 4

604364 Epilepsy, familial focal, with variable foci 4

614115 Cortical malformations, occipital 4

610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

4


615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

4

606071 Hereditary motor and sensory neuropathy, type IIc 4

603513 Cerebral palsy, spastic quadriplegic, 1 4

615859 Early infantile epileptic encephalopathy 4


604168 Congenital cataracts, facial dysmorphism, and neuropathy 4

608323 Charcot-Marie-Tooth disease, dominant intermediate C 4

261515 D-bifunctional protein deficiency 4

608030Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia

4

600274 Dementia, frontotemporal 4

300321 FG syndrome 2 4


300623 Fragile X tremor/ataxia syndrome 4

105830 Angelman syndrome 4

603415 Hereditary sensory neuropathy type IID 4



182290 Smith-Magenis syndrome 3

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

613135 Parkinsonism-dystonia, infantile 3



3



3

615829 Xia-Gibbs syndrome 3

613155Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1

3

601954 Muscular dystrophy, limb-girdle, type 2G 3


608930 Myasthenic syndrome, fast-channel congenital 3




255310 Myopathy, congenital, with fiber-type disproportion 3

609284 Nemaline myopathy 1, autosomal dominant or recessive 3

611302 Spastic ataxia 2, autosomal recessive 3


607596 Pontocerebellar Hypoplasia, Type 1A 3






117360 Spinocerebellar ataxia 29, congenital nonprogressive 3


612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)

3

614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 3


248900 Spastic paraplegia-21, autosomal recessive 3

615356 Muscular dystrophy, limb-girdle, type 2S 3

300653 Phosphoglycerate kinase 1 deficiency 3

160150 Myopathy, centronuclear 1 3

616867 Spinal muscular atrophy with congenital bone fractures 2 3

611705 Myopathy, early-onset, with fatal cardiomyopathy 3


613265 Waardenburg syndrome, type 4B 3

613811 Pontocerebellar hypoplasia type 2D 3

303350 Spastic paraplegia 1, X-linked 3

615120Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects

3

254130 Miyoshi muscular dystrophy 1 3



605375 Epilepsy, nocturnal frontal lobe, 3 3

10

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

613641 Charcot-Marie-Tooth disease, recessive intermediate, B 3

613227Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

3

616875Cerebellar atrophy, visual impairment, and psychomotor retardation

3

607677 Charcot-Marie-Tooth disease, type 2I 3

277460 Ataxia with isolated vitamin E deficiency 3



616488 Hereditary sensory and autonomic neuropathy type 8 3

614188 Craniosynostosis and dental anomalies 3



609033 Ataxia, posterior column, with retinitis pigmentosa 3


236600 Hydrocephalus, nonsyndromic, autosomal recessive 1 3

127000 Kenny-Caffey syndrome, type 2 3

615219 Hydrocephalus, nonsyndromic, autosomal recessive 2 3

614830Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8

3


615763 Cortical dysplasia, complex, with other brain malformations 5 3

615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity

3


200990 Acrocallosal syndrome 3

160500 Liang distal myopathy 3

300495 Autism, Susceptibility To, X-Linked 2 3

601098 Charcot-Marie-Tooth disease, type 1C 3

614436 Charcot-Marie-Toothe disease, axonal, type 2P 3

607734 Charcot-Marie-Tooth disease, type 1F 3

615833 Early infantile epileptic encephalopathy type 21 3



609446 Generalized epilepsy and paroxysmal dyskinesia 3

613940 Epilepsy, hearing loss, and mental retardation syndrome 3

310300 Emery-Dreifuss muscular dystrophy 1, X-linked 3




271245 Spinocerebellar ataxia, infantile-onset 2


155310 Visceral myopathy 2

312920 Spastic paraplegia 2, X-linked 2


313200 Spinal and bulbar muscular atrophy of Kennedy 2



Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

300799 Mental Retardation, X-Linked, Syndromic, Raymond Type 2

614116 Neuropathy, hereditary sensory, type IE 2

607641 Neuronopathy, Distal Hereditary Motor, Type Viib 2

606688 Prion disease with protracted course 2

300919 X-linked mental retardation-99 2

300243 Mental Retardation, X-Linked, Syndromic, Christianson Type 2

607801 Muscular dystrophy, limb-girdle, type IC 2

605820 Nonaka myopathy 2

260300 Parkinson disease 15, autosomal recessive 2

602771 Rigid Spine Muscular Dystrophy 1 2

614807 Myopathy, centronuclear, 4 2

300143 Mental Retardation, X-Linked 21 2

608097 Periventricular heterotopia with microcephaly 2

611067 Spinal muscular atrophy, distal, autosomal recessive, 4 2

300699 Mental Retardation, X-Linked, Syndromic, Wu Type 2

610042 Pitt-Hopkins like syndrome 1 2

108600 Spastic ataxia 1, autosomal dominant 2

300706 Mental retardation, X-linked syndromic, Turner type 2


253400 Spinal muscular atrophy-3 2

615851 Pontocerebellar hypoplasia, type 2E 2

181430 Scapuloperoneal syndrome, myopathic type 2

607454 spinocerebellar ataxia 21 2


2

614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss 2

614455 Charcot-Marie-Tooth disease, dominant intermediate E 2

614652 Coenzyme Q10 deficiency, primary, 3 2


254780 Epilepsy, progressive myoclonic 2A (Lafora) 2


137440 Gerstmann-Straussler disease 2

616789Mental retardation and distinctive facial features with or without cardiac defects

2

254780 Epilepsy, progressive myoclonic 2B (Lafora) 2


607624 Griscelli syndrome, type 2 2

226750 Kohlschutter-Tonz syndrome 2

254900 Epilepsy, progressive myoclonic 4, with or without renal failure 2

615282 Cortical dysplasia, complex, with other brain malformations 2 2

614417 Epilepsy, familial temporal lobe, 5 2

123400 Creutzfeldt-Jakob disease 2


616268 Mental retardation, autosomal dominant 2

615217 Ataxia-oculomotor apraxia 3 2


606595 Charcot-Marie-Tooth disease, axonal, type 2F 2


11

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL



612998 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2

128101 Dystonia 4, torsion, autosomal dominant 2

607831 Charcot-Marie-Tooth disease, axonal, type 2K 2

300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia

2

612100 Autism susceptibility 15 2


613345 Hypokalemic periodic paralysis, type 2 2


600737 Inclusion body myopathy, autosomal recessive 2

601887 Malignant hyperthermia susceptibility 5 2

611228 Charcot-Marie-Tooth disease, type 4J 2

613670Mental retardation with language impairment and with or without autistic features

2

225750 Aicardi-Goutieres syndrome 1, dominant and recessive 2


615025 Charcot-Marie-Tooth disease, axonal, type 2Q 2

612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 2

118700 Chorea, Benign Hereditary 2






201300 Neuropathy, hereditary sensory and autonomic, type II 1


613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

1

168605 Perry syndrome 1


300419Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related

1

602541 Muscular dystrophy, congenital, megaconial type 1

609161 Striatal degeneration, autosomal dominant 1



610542 Myasthenic Syndrome, Congenital, With Tubular Aggregates 1 1


159000 Muscular dystrophy, limb-girdle, type 1A 1

121201 Seizures, Benign Familial Neonatal, 2 1



615625 Spastic paraplegia 72 1

137200 Neuromyotonia and axonal neuropathy, autosomal recessive 1


612075 Mitochondrial DNA depletion syndrome 8A 1

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL



616756Spastic Paraplegia and Psychomotor Retardation with or without Seizures

1

233400 Perrault syndrome 1 1




193510 Waardenburg syndrome, type 2A 1

615528 Parkinson disease 19, juvenile-onset 1

614508 Mirror movements 2 1

159001 Muscular dystrophy, limb-girdle, type 1B 1

609285 Nemaline myopathy 4, autosomal dominant 1



609283Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2

1


603511 Muscular dystrophy, limb-girdle, type 1E 1

158600 Spinal muscular atrophy, lower extremity-predominant 1, AD 1

600795 Dementia, familial, nonspecific 1

616355 Mental Retardation, Autosomal Dominant 35 1


600512 Epilepsy, familial temporal lobe, 1 1



181350 Emery-Dreifuss muscular dystrophy 2 1



616280 Charcot-Marie-Tooth disease, axonal, type 2U 1

211530 Brown-Vialetto-Van Laere syndrome 1 1

105120 Amyloidosis, finnish type 1

133020 Erythermalgia, primary 1

254770 Epilepsy, myoclonic juvenile 1

614619 Hyperekplexia 2, autosomal recessive 1

614388Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission

1


606703 Dyskinesia, familial, with facial myokymia 1


300537 Heterotopia, periventricular, ED variant 1

125370 Dentatorubro-pallidoluysian atrophy 1

608673 Charcot-Marie-Tooth disease, axonal, type 2L 1


614212 Encephalopathy, acute, infection-induced, 4 1

615866 Mental retardation, autosomal dominant, 27 1

606438 Huntington disease-like 2 1

616039 Charcot-Marie-Tooth disease, recessive intermediate D 1

12

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

614039 Cortical dysplasia, complex, with other brain malformations 1

105200 Amyloidosis, familial visceral 1

311070 Charcot-Marie-Tooth disease, X-linked recessive, 5 1

614254 Mental retardation type 8 1

606482 Charcot-Marie-Tooth disease, dominant intermediate B 1

300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia

1

601003 Brody myopathy 1

600669 Epilepsy, idiopathic generalized 1


612069Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

1



613610 Cranioectodermal dysplasia 2 1

610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 1

614099 Cranioectodermal dysplasia 3 1






123320 Creatine phosphokinase, elevated serum 1


600072 Insomnia, fatal familial 1

614847 Epilepsy, idiopathic generalized, suscpetibility to, 12 1

616299 Lipoyltransferase 1 deficiency 1

616579 Mental retardation, autosomal dominant, 40 1

607684 Charcot-Marie-Tooth disease, type 2E 1

603689 Hereditary myopathy with early respiratory failure 1


600513 Epilepsy, nocturnal frontal lobe, 1 1

615007 Basal ganglia calcification, idiopathic, 4 1

610353 Epilepsy, Nocturnal Frontal Lobe, 4 1


03. Ophthalmological disorders

TOTAL 872

203100 Albinism, oculocutaneous, type IA 64

535000 Leber optic atrophy / Leber hereditary optic neuropathy 43

248200 Stargardt disease 1 35

165500 Optic atrophy 1 31

203200 Albinism, oculocutaneous, type II 31

600118 Warburg micro syndrome 1 29

203800 Alstrom syndrome 28

610092 Microphthalmia with coloboma 3 27

231300Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset

21

609508 Stickler sydrome, type I, nonsyndromic ocular 17

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

601718 Retinitis pigmentosa 19 15

276900 Usher syndrome, type 1B 14

180200 Retinoblastoma 13

610093 Microphthalmia, isolated 2 13

611755 Leber congenital amaurosis 10 12

276901 Usher syndrome, type 2A 12

222300 Wolfram syndrome 11


277600 Weill-Marchesani Syndrome 1; 11

258870 Gyrate atrophy of choroid and retina with or without ornithinemia 10

302350 Nance-Horan syndrome 9

604841 Stickler syndrome, type II 9

258450 Progressive external ophthalmoplegia, autosomal recessive 9




604116 Cone-rod dystrophy 3 9

153700 Macular Dystrophy, Vittelliform 8



611544 Cataract 17, multiple types 7

609254 Senior-Loken syndrome 5 7

110100 Blepharophimosis, epicanthus inversus, and ptosis 7

607313 Gaze palsy, horizontal, with progressive scoliosis 6



300071 Night blindness, congenital stationary (incomplete), 2A, X-linked 6

217080 Jalili syndrome 6

610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

6



106210 Aniridia 5




300600 Aland Island eye disease 5

184840 Stickler syndrome, type III 5

610019 Cataract 18, autosomal recessive 5

615145 Microphthalmia, isolated, with coloboma 9 5

614073 Hermansky-Pudlak syndrome 4 5

615113 Microphthalmia, isolated 8 5

605472 Usher syndrome, type iic 4



267750 Knobloch syndrome, type 1 4



13

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

217700 Corneal endothelial dystrophy 2, autosomal recessive 4

266920 Mainzer-Saldino syndrome 4

248800 Marinesco-Sjogren syndrome 4

262300 Achromatopsia-3 4

607932 Microphthalmia, syndromic 6 4





143200 Wagner syndrome 1 / Wagner vitreoretinopathy 3

607541 Corneal dystrophy, Avellino type 3


248450 Manitoba oculotrichoanal syndrome 3


216900 Achromatopsia-2 3

180500 Axenfeld-Rieger syndrome, type 1 3

300166 Microphthalmia, syndromic 2 3

614170 Brittle Cornea Syndrome 2 3

229200 Brittle cornea syndrome 3


133780 Exudative vitreoretinopathy 3


135700 Fibrosis Of Extraocular Muscles, Congenital, 1 3


613587 Occult macular dystrophy 3


606574 Oculocutaneous albinism, type IV 3

203290 Albinism, oculocutaneous, type III 3

600638 Fibrosis of extraocular muscles, congenital, 3A 3

601067 Usher syndrome, type 1D 3



613856 Acromatopsia 3

6113220 Cataract type 43 3



614296 Wolfram-like syndrome, autosomal dominant 2

608161 Vitelliform macular dystrophy, adult-onset 2

310600 Norrie disease 2


153800 Macular degeneration, age-related, 2 2

600886 Hyperferritinemia With Or Without Cataract 2

609286 Progressive external ophthalmoplegia, autosomal dominant, 3 2

300500 Albinism, Ocular, Type I 2





Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL


136880 Retinitis punctata albescens 2

601186 Microphthalmia, isolated, with coloboma 8 2

602083 Usher syndrome, type 1F 2

268100 Enhanced S-cone syndrome 2

310500 Night blindness, congenital stationary (complete), 1A, X-linked 2

610427Night blindness, congenital stationary (incomplete), 2B, autosomal recessive

2


610202 Cataract, pulverulent or cerulean, with or without microcornea 2


255320 Minicore myopathy with external ophthalmoplegia 1

613216Night blindness, congenital stationary (complete), 1C, autosomal recessive

1



165300 Optic atrophy 3 with cataract 1

126600 Doyne honeycomb degeneration of retina 1

225100 Ectopia lentis, isolated, autosomal recessive 1

613194 Retinitis pigmentosa-50 1

169150Patterned dystrophy of retinal pigment epithelium (macular dystrophy)

1

137760 Adult-onset primary open angle glaucoma 1


614134 Stickler syndrome, type IV 1

604229 Peters anomaly 1

613105 Choriodal dystrophy, central areolar 2 1


309300 Megalocornea 1, X-linked 1

269400 Corneal opacification and other ocular anomalies 1


613887 Cataract 36 1


614691 Cataract 38, autosomal recessive 1




206900 Microphthalmia, Syndromic 3 1

601631 Iridogoniodysgenesis, type 1 1


251900 Mitochondrial myopathy 1

178300 Ptosis, hereditary congenital, 1 1



148210 Keratitis-ichthyosis-deafness syndrome 1

608471 Corneal dystrophy, lattice type IIIA 1

193220 Vitreoretinochoroidopathy 1

610356 Retinal cone dystrophy 3B 1

14

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL


609887 Glaucoma 1, open angle, G 1

225200 Ectopia lentis et pupillae 1


606952 Albinism, oculocutaneous, type IB 1

116700 Cataract 13 with adult i phenotype 1

251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

1

04. Ear, nose and throat disorders

TOTAL 285

600316 Deafness, autosomal recessive 3 23


220290 Deafness, autosomal recessive 1A 22








211500 Fazio-Londe disease 9

604928 Wolfram syndrome 2 8


601072 Deafness, autosomal recessive 8/10 7


611884 Ciliary dyskinesia, primary, 7, with or without situs inversus 7





608647 Ciliary dyskinesia, primary, 5 5


600791Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

5

614617 Deafness , autosomal recessive 86 4



610706Deafness, congenital with inner ear agenesis, microtia, and microdontia

3

220500 Door syndrome 3



304500 Deafness, X-linked 1 2


600652 Deafness, autosomal dominant 4A 2

614614 Deafness, autosomal dominant 4B 2

601317 Deafness, autosomal dominant 11 2


Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

300914 Deafness, X-linked 6 2
















304700 Mohr-Tranebjaerg syndrome 1




05. Bone, skin and immune disorders

TOTAL 1580

226700 Epidermolysis bullosa, junctional, Herlitz type 62

166200 Osteogenesis imperfecta, type I 59

130000 Ehlers-Danlos syndrome, type I 44

154700 Marfan syndrome 40

146700 Ichthyosis vulgaris 39

613217 Diarrhea 5, with tufting enteropathy, congenital 32

265800 Pycnodysostosis 32

256500 Netherton syndrome 31

130050 Ehlers-Danlos syndrome, type IV 28

130020 Ehlers-Danlos syndrome, type III 24

242100 Ichthyosis, congenital, autosomal recessive 2 23

308100 Ichthyosis, X-linked 23

308300 Incontinentia pigmenti, type II 22

305100 Ectodermal dysplasia 1, hypohidrotic, X-linked 20

251850 Microvillus inclusion disease 20

121050 Contractural arachnodactyly, congenital 19

259700 Osteopetrosis, autosomal recessive 1 19

231050 Geleophysic dysplasia 1 19

226600 Epidermolysis bullosa dystrophica, autosomal recessive 18

610968 Osteogenesis imperfecta, type XI 17

131760 Epidermolysis bullosa simplex, Dowling-Meara type 17

614602 Trichohepatoenteric syndrome 2 15


306400 Chronic granulomatous disease, X-linked 15

603553 Hemophagocytic lymphohistiocytosis, familial, 2 15

228600 Hyaline fibromatosis syndrome 15

15

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

275210 Restrictive dermopathy, lethal 14

601277 Ichthyosis, congenital, autosomal recessive 4A 14

242500 Ichthyosis congenita type 4B, Harlequin 14

100800 Achondroplasia 14


154400 Acrofacial dysostosis 1, Nager type 13

259730 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 12

119600 Cleidocranial dysplasia 12

201100 Acrodermatitis enteropathica zinc deficiency type 12

208230 Arthropathy, progressive pseudorheumatoid, of childhood 12

190350 Trichorhinophalangeal syndrome, type I 12


166210 Osteogenesis imperfecta, type II 12

600972 Achondrogenesis Ib 11

122470 Cornelia de Lange syndrome 1 11

601680 Arthrogryposis, distal, type 2B 11

131750 Epidermolysis bullosa dystrophica, AD 11

612940 Cutis laxa, autosomal recessive, type IIB 10

267500 Reticular dysgenesis 10

245000 Papillon-Lefevre syndrome 10

300373 Osteopathia striata with cranial sclerosis 10

601457Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive

10

225400 Ehlers-Danlos syndrome, type VI 10

161200 Nail-patella syndrome 10


102500 Hajdu-Cheney syndrome 9

600376 Telangiectasia, hereditary hemorrhagic, type 2 9

610915 Osteogenesis imperfecta, type VIII 9

136140 Floating-Harbor syndrome 9

226650 Epidermolysis bullosa, junctional, non-Herlitz type 9

301000 Wiskott-Aldrich syndrome 9

611431 Legius syndrome 9

135100 Fibrodysplasia ossificans progressiva 9


222600 Diastrophic dysplasia 8

158300 Arthrogryposis, Distal, Type 7 8

604379Hypotrichosis 7 /Woolly hair, autosomal recessive 2 with or without hypotrichosis

8

208085 Arthrogryposis, renal dysfunction, and cholestasis 1 8

257980 Odontoonychodermal dysplasia 8

130060 Ehlers-Danlos syndrome, type VII 8


614437 Cutis laxa, autosomal recessive, type IB 8

614335 Arthrogryposis, distal, type 1B 7

187300 Telangiectasia, hereditary hemorrhagic, type 1 7


133700 Exostoses, multiple, type 1 7

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

102700 Adenosine deaminase deficiency 7

131800 Epidermolysis bullosa simplex, Weber-Cockayne type 7

609536 C5 deficiency 6

606408Ehlers-Danlos like syndrome, autosomal recessive, due to tenascin X deficiency

6

259770 Osteoporosis-pseudoglioma syndrome 6

609220 Bruck syndrome 2 6

608649 Ichthyosis prematurity syndrome 6

127300 Leri-Weill dyschondrosteosis 6

193700 Arthrogryposis, distal, type 2A 6

614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

6

609796 Peeling skin syndrome, acral type 6

209950 Mycobacterial infection, atypical, familial disseminated 6

607944 Spondyloenchondrodysplasia with immune dysregulation 6

214450 Griscelli syndrome, type 1 6

200600 Achondrogenesis, type IA 6

127550 Dyskeratosis congenita, autosomal dominant 1 6

166300 Multicentric carpotarsal osteolysis syndrome 6

610682 Osteogenesis imperfecta, type VII 5

214500 Chediak-Higashi syndrome 5

166600 Osteopetrosis, autosomal dominant 2 5

226730 Epidermolysis bullosa, junctional, with pyloric atresia 5

143095 Spondyloepiphyseal dysplasia with congenital joint dislocations 5

146800 Ichthyosis, Bullous Type 5

613989 Dyskeratosis congenita, autosomal recessive 4 5

209920 MHC class II deficiency, complementation group B 5

177170 Pseudoachondroplasia 5

166700 Buschke-Ollendorff syndrome 5

260920 Hyper-IgD syndrome 5

603554 Omenn syndrome 5

243700 Hyper-IgE recurrent infection syndrome, autosomal recessive 5

259420 Osteogenesis imperfecta, type III 5

611584Waardenburg syndrome, type 2E, with or without neurologic involvement

5

113800 Epidermolytic hyperkeratosis 4

602078 Fibrosis of extraocular muscles, congenital, 2 4

144200 Palmoplantar keratoderma, epidermolytic 4

604625 Tooth agenesis, selective, 3 4

602450 Severe combined immunodeficiency, Athabascan type 4

108145 Arthrogryposis, distal, type 5 4

607903 Hypotrichosis 6 4

278700 Xeroderma pigmentosum, group A 4

613002 Herpes simplex encephalitis, susceptibility to, 2 4


614078 Chondrodysplasia with joint dislocations, GPAPP type 4

132400 Epiphyseal Dysplasia, Multiple, 1 4

16

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

240300Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia

4


614816 Loeys-Dietz syndrome, type 4 4

614613 Acrodysostosis 2, with or without hormone resistance 4

608612 Mandibuloacral dysplasia with type B lipodystrophy 4

167210 Pachyonychia congenita 2 4

226980 Wolcott-Rallison syndrome 4

613990 Dyskeratosis congenita, autosomal dominant 3 4

601859 Autoimmune lymphoproliferative syndrome 4

278780 Xeroderma pigmentosum, group G/Cockayne syndrome 3

259100Cranioosteoarthropathy /Hypertrophic osteoarthropathy, primary, autosomal recessive 1

3

616229 Osteogenesis Imperfecta, Type XVI 3

616353 Dyskeratosis congenita, autosomal recessive 6 3


305000 Dyskeratosis congenita, X-linked 3

613849 Osteogenesis imperfecta, type XII 3

601813 Exudative vitreoretinopathy 4 3

614890 Immunodeficiency 29, mycobacteriosis 3

133200 Erythrokeratodermia variabilis et progressiva 3

224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

3

300755 Agammaglobulinemia, X-linked 1 3

228520 Fibrochondrogenesis 1 3

614653 Neuropathy, hereditary sensory and autonomic, type VI 3

612138 Epidermolysis bullosa simplex with pyloric atresia 3

609192 Loeys-Dietz syndrome 1 3

615066 Osteogenesis imperfecta, type XIV 3

602875 Acromesomelic dysplasia, maroteaux type 3

234050 Trichothiodystrophy, nonphotosensitive 1 3

129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

3

607634 Osteopetrosis, autosomal dominant 1 3

305600 Focal dermal hypoplasia 3

615425 Epidermolysis bullosa simplex, sutosomal recessive 2 3

613652 C1q deficiency 3

236700 McKusick-Kaufman syndrome 3

610168 Loeys-Dietz syndrome, type 2 2

228930 Fuhrmann syndrome 2

233700 Chronic granulomatous disease due to deficiency of NCF-1 2

257920 3MC syndrome 1 2


258480 Opsismodysplasia 2

601001 Epidermolysis bullosa simplex, recessive 1 2

614219 Adams-Oliver syndrome 2 2


166220 Osteogenesis imperfecta, type IV 2

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL


615468 Immunodeficiency 12 2

167200 Pachyonychia congenita 1 2

615513 Immunodeficiency 14 2

248300 Mal de Meleda 2

242860Immunodeficiency-centromeric instability-facial anomalies syndrome 1

2

224750 Schopf-Schulz-Passarge syndrome 2

304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

2

193500 Waardenburg syndrome, type 1 2


113000 Brachydactyly, type B1 2

266300 Skin, hair, and eye pigmentation type 2 1


613177 Cutis laxa, autosomal recessive, type IC 1


611291Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

1

166350 Osseous heteroplasia, progressive 1

607823 Hypotrichosis-lymphedema-telangiectasia syndrome 1

259440 Osteogenesis imperfecta, type IX 1

606579 Vitiligo-associated multiple autoimmune disease susceptibility 1 1

266600 Inflammatory Bowel Disease 1 1

614856 Osteogenesis imperfecta, type XIII 1

610967 Osteogenesis imperfecta, type V 1

615539 Ehlers-Danlos syndrome musculocontractural type 2 1


608681 Spondylocostal dysostosis 2, autosomal recessive 1


610102 C7 deficiency 1

607785 Leukemia, juvenile myelomonocytic 1

200610 Achondrogenesis, type II or hypochondrogenesis 1

613982 Osteogenesis imperfecta, type VI 1

259600 Multicentric osteolysis, nodulosis, and arthropathy 1

166710 Osteoporosis 1

124200 Darier disease 1

133701 Exostoses, multiple, type 2 1

308230 Immunodeficiency With Hyper-Igm, Type 1 1

604864 Osteoarthritis with mild chondrodysplasia 1

174800 McCune-Albright syndrome, somatic, mosaic 1

233650 Combined cellular and humoral immune defects with granulomas 1

300400 Severe combined immunodeficiency, X-linked 1

278720 Xeroderma pigmentosum, group C 1

277300 Spondylocostal dysostosis 1, autosomal recessive 1

600962 Palmoplantar keratoderma, nonepidermolytic 1

278760 Xeroderma pigmentosum, group F 1

615735 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 1

17

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

609939 Systemic lupus erythematous, association with susceptibility to, 6 1

148600 Palmoplantar keratoderma, punctate type ia 1

208250 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1

153400 Lymphedema-distichiasis syndrome 1

225410 Ehlers-Danlos syndrome, type 7C 1

609628 Majeed syndrome 1

606843 Immunodeficiency with hyper-IgM, type 3 1

172800 Piebaldism 1

607594 Immunodeficiency, common variable, 1 1

147060 Hyper-IgE recurrent infection syndrome 1

193530 Weyers acrofacial dysostosis 1

614204 Psoriasis, generalized pustular 1

601884 Bone Mineral Density Quantitative Trait Locus 1 1

120100 Familial Cold Autoinflammatory Syndrome 1 1

131950 Epidermolysis bullosa simplex, Ogna type 1

604536 Ectodermal dysplasia/skin fragility syndrome 1

615028 Epidermolysis bullosa, nonspecific, autosomal recessive 1

278750 Xeroderma pigmentosum, variant type 1

155950 Melorheostosis with osteopoikilosis 1

156530 Metatropic dysplasia 1

06. Cardiological and lung disorders

TOTAL 259

192500 Long QT syndrome-1 21

115197 Cardiomyopathy, familial hypertrophic, 4 20


540000 MELAS syndrome 16

192600 Cardiomyopathy, familial hypertrophic 1 13


610476 Arrhythmogenic right ventricular dysplasia 11 10

220400 Jervell and Lange-Nielsen syndrome 10


601144 Brugada syndrome 1 7


187500 Tetralogy of Fallot 6

615373 Left ventricular noncompaction 8 5

604145 Cardiomyopathy, dilated, 1G 5


609040 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 4


604772 Ventricular tachycardia, catecholaminergic polymorphic, 1 4



115200 Cardiomyopathy, dilated, 1A 3

605025Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa

3

212350 Sengers syndrome 3

300257 Danon disease 3

601493 Cardiomyopathy, dilated 1C 3

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

613426 Cardiomyopathy, dilated, 1S 3


611615 Cardiomyopathy, dilated, 1X 3

302060 Barth syndrome 3


209880 Central hypoventilation syndrome, congenital 3

600858 Cardiomyopathy, familial hypertrophic 6 3

615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

3

302045 Cardiomyopathy, dilated, 3B 2

272120 susceptibility to sudden infant death syndrome 2

614823 Aortic valve disease 2 2

601494 Cardiomyopathy, dilated, 1D 2


601154 Cardiomyopathy, dilated, 1E 2


614466 Coronary heart disease, susceptibility to, 6 2

600462 Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 2

223360 Dopamine beta-hydroxylase deficiency 2

615248 Cardiomyopathy, dilated, 1KK 2


613252 Cardiomyopathy, dilated, 1EE 1

612955 Long QT syndrome 12 1

615396 Cardiomyopathy, dilated, 1MM 1


601005 Timothy syndrome 1

611879 Cardiomyopathy, dilated, 1Z 1

300751 Anemia, sideroblastic, X-linked 1

211400 Bronchiectasis with or without elevated sweat chloride 1 1


614980 Congenital heart defects, nonsyndromic, 2 1


607554 Atrial fibrillation, familial, 3 1

612158 Cardiomyopathy, dilated, 1AA 1




07. Vascular disorders

TOTAL 304

125310Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

65

236200 Homocystinuria, B6-responsive and nonresponsive types 44

106100 Angioedema, hereditary, type I 42

208050 Arterial tortuosity syndrome 30

613118 Antithrombin III deficiency 23

132900 Aortic aneurysm, familial thoracic 4 10

236250 Homocystinuria due to MTHFR deficiency 8

231200 Bernard-Soulier syndrome, type C 6

18

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

612304 Thrombophilia due to protein C deficiency, autosomal recessive 6

116860 Cerebral Cavernous Malformations 5

614473 Arterial calcification, generalized, of infancy, 2 5

176860 Thrombophilia due to protein C deficiency, autosomal dominant 5

109730 Aortic Valve Disease 1 4

614495 Pseudohypoaldosteronism, type IID 4

615688 Polyarteritis nodosa, childhood-onset 4

612336 Thrombophilia due to protein S deficiency, autosomal dominant 4

606871Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts

4

208000 Arterial calcification, generalized, of infancy, 1 4

616006 Hennekam lymphangiectasia-lymphedema syndrome 2 3

600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

3

182410 Sneddon syndrome 3

268200 Myoglobinuria, acute recurrent, autosomal recessive 3

235510 Hennekam lymphangiectasia-lymphedema syndrome 1 3

613780 Aortic aneurysm, familial thoracic 7 2

613834 Multisystemic smooth muscle dysfunction syndrome 2

611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

2

614595 Preeclampsia/eclampsia 5 2

603285 Cerebral cavernous malformations 3 2

614514 Thrombophilia due to protein S deficiency, autosomal recessive 2

615934 STING-associated vasculopathy, infantile-onset 1

610618 Angioedema, hereditary, type III 1

120000 Coarctation of aorta 1

614519 Hemorrhage, intracerebral, susceptibility to 1

08. Liver, kidney and endocrinological disorders

TOTAL 1673

173900 Polycystic kidney disease 1 393

263200 Autosomal recessive polycystic kidney disease 150

613095 Polycystic kidney disease 2 64

203780 Alport syndrome, autosomal recessive 62

301050 Alport syndrome, X-linked 59

167800 Pancreatitis, hereditary 50

220100 Cystinuria 50

263800 Gitelman syndrome 50

605899 Glycine encephalopathy 46

235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1 34

256300 Nephrotic syndrome, type 1 31

209900 Bardet-Biedl syndrome 1 22



615878 Cholestasis, progressive familial intrahepatic 4 20

256100 Nephronophthisis 1, juvenile 16



Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

602722 Renal tubular acidosis, distal, autosomal recessive 15

143500 Gilbert syndrome 15

231550 Achalasia-addisonianism-alacrimia syndrome 15

309400 Menkes disease 15




241410Hypoparathyroidism-retardation-dysmorphism syndrome(Sanjad-Sakati Syndrome)

12

104200 Alport syndrome, autosomal dominant 12


244200 Hypogonadotropic hypogonadism 3 with or without anosmia 12

607364 Bartter syndrome, type 3 11

606966 Nephronophthisis 4 11



609049 Pierson syndrome 9

275200 Hypothyroidism, congenital, nongoitrous, 1 9

243800 Johanson-Blizzard syndrome 9

249000 Meckel syndrome 1 9


300009 Dent disease 8

300068 Androgen insensitivity 8


274000 Thrombocytopenia-absent radius syndrome 8

188570 Thyroid hormone resistance 7

237500 Dubin-Johndon syndrome 7

274600 Pendred syndrome 7


613090 Bartter syndrome, type 4b, digenic 7




194080 Denys-Drash syndrome 6

274500 Thyroid dyshormonogenesis 2A 6

262500 Laron syndrome 6




267430 Renal tubular dysgenesis 5

267300 Renal tubular acidosis with deafness 5


614809 Nephropathy due to CFHR5 deficiency 5


612653 Spherocytosis, type 4 4

601331 Renal dysplasia, cystic, susceptibility to 4

243300 Cholestasis, Benign Recurrent Intrahepatic, 1 4

201710 Lipoid adrenal hyperplasia 4

19

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

309000 Lowe oculocerebrorenal syndrome 4




264350 Pseudohypoaldosteronism, type I 4

603860 Medullary cystic kidney disease 2 4

600208 Macrothrombocytopenia and progressive sensorineural deafness 4



193100 Hypophosphatemic rickets, autosomal dominant 4



237450 Hyperbilirubinemia, Rotor type, digenic 4


307800 Hypophosphatemic rickets, X-linked dominant 4

615438 Infantile liver failure syndrome type 1 3


611590 Renal tubular acidosis, distal, with hemolytic anemia 3

601198 Hypocalcemia, autosomal dominant, with Bartter syndrome 3

146200 Hypoparathyroidism, familial, isolated 3

607361 Meckel Syndrome, Type 3 3

616483 Infantile liver failure syndrome type 2 3


277440 Rickets, vitamin D-resistant, type IIA 3

603965 Glomerulosclerosis, focal segmental, 2 3

614199 Nephrotic syndrome, type 5, with or without ocular abnormalities 3

219050 Cryptorchidism, unilateral or bilateral 2

604278 Renal tubular acidosis, proximal, with ocular abnormalities 2

233100 Renal glucosuria 2


177200 Liddle syndrome 2

274300 Thyroid hormone resistance, autosomal recessive 2

612781 Isolated Growth Hormone Deficiency, Type Ib 2

239200 Hyperparathyroidism, neonatal 2


174050 Polycystic liver disease 2


177735 Pseudohypoaldosteronism type I, autosomal dominant 2


308700Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

2

615849 Culler-Jones syndrome 2

103580 Pseudohypoparathyroidism Ia 2

138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 2



147480 Cholestasis, intrahepatic, of pregnancy, 1 1

173100 Growth hormone deficiency, isolated, type II 1

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

600955 Obesity with impaired prohormone processing 1

141200 Hematuria, benign familial 1


602522 Bartter Syndrome, Type 4A 1


614450 Hypothyroidism, congenital, nongoitrous, 6 1

146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 1


615397 Meckel syndrome, type 11 1


201400 Adrenocorticotropic hormone deficiency 1

615346 Precocious puberty, central, 2 1


176410 Precocious puberty, male 1



613237 Focal Segmental Glomerulosclerosis 5 1


274700 Thyroid dyshormonogenesis 3 1

614491 Pseudohypoaldosteronism, type IIB 1

607748 Hypercholanemia, familial 1


174000 Medullary cystic kidney disease 1 1

09. Reproductive disorders

TOTAL 34

264600 Pseudovaginal perineoscrotal hypospadias 19

277180 Congenital bilateral absence of vas deferens 5

238320 Leydig cell hypoplasia, types I & II 3

261550 Persistent Mullerian duct syndrome, type I 2

270960 Spermatogenic failure 4 1

612965 46XY sex reversal 3 1

607080 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 1

613958 Spermatogenic failure 9 1

608115 Ovarian hyperstimulation syndrome 1

10. Tumoral disorders

TOTAL 961

604370 Breast-ovarian cancer, familial, susceptibility to, 1 248

114480 Breast cancer, familial 174

162200 Neurofibromatosis, type 1 158

114500 Colorectal Cancer 55

175100 Adenomatous polyposis coli 51

612555 Breast-ovarian cancer, familial, 2 46

609310 Colorectal cancer, hereditary nonpolyposis, type 2 19

193300 von Hippel-Lindau syndrome 18

130650 Beckwith-Wiedemann syndrome 17

158350 Cowden syndrome 1 17

120435Lynch syndrome I / Colorectal cancer, hereditary nonpolyposis, type 1

13

20

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

171300 Pheochromocytoma 11

151623 Li-Fraumeni syndrome 10

211980 Lung Cancer 8

276300 Mismatch repair cancer syndrome 8


171400 Multiple endocrine neoplasia IIA 6

254450 Myelofibrosis with myeloid metaplasia, somatic 6

612263 Melanoma, cutaneous malignant, 7 6

131100 Multiple endocrine neoplasia 1 6

175200 Peutz-Jeghers syndrome 5

137215 Gastric Cancer, Hereditary Diffuse 5

101000 Neurofibromatosis, type 2 4


606719 Pancreatic cancer/melanoma syndrome 4

609265 Li-Fraumeni Syndrome 2 4


138000 Glomuvenous malformations 3

608456 Familial adenomatous polyposis-2 3

606764 Gastrointestinal stromal tumor 3

151400 Chronic lymphocytic leukemia 3

263300 Polycythemia vera 3

605041 Spiegler-Brooke syndrome 3

605373 Paragangliomas 3 3

614470 Autoimmune lymphoproliferative syndrome type IV 3

614286 Myelodysplastic syndrome, somatic 2

605074 Renal cell carcinoma, papillary 2



608089 Endometrial Cancer 2

135290 Desmoid disease, hereditary 1

155601 Melanoma, cutaneous malignant, 2 1

174900 Juvenile polyposis syndrome 1


614320 Pancreatic cancer, susceptibility to, 4 1


231090 Hydatidiform mole 1


603769 Leukemia/lymphoma, T-cell 1

160980 Carney complex, type 1 1

613347 Pancreatic cancer 1



11. Malformation and retardation syndromes

TOTAL 1448

241080 Woodhouse-Sakati syndrome 67

601559 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 51

214800 CHARGE syndrome 44

118450 Alagille syndrome 41

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

608716 Microcephaly 5, primary, autosomal recessive 31

175780 Porencephaly 1 29

610205 Alagille syndrome 2 29

210720 Microcephalic osteodysplastic primordial dwarfism, type II 25

163950 Noonan syndrome 1 23

312750 Rett syndrome 21

117550 Sotos syndrome 1 21

604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

21

176450 Currarino syndrome 20

242840 Vici syndrome 20

175700 Greig cephalopolysyndactyly syndrome 18

615960 Poretti-Boltshauser syndrome 17

109400 Basal cell nevus syndrome 16

142623 Hirschsprung disease, susceptibility to, 1 15

235730 Mowat-Wilson syndrome 15

180849 Rubinstein-Taybi syndrome 15


133540 Cockayne syndrome, type B 15

614325 Pitt-Hopkins-like syndrome 2 15

147920 Kabuki syndrome 1 14

607432 Lissencephaly 1 14

222448 Donnai-Barrow syndrome 12

609637 Holoprosencephaly 5 12

135150 Birt-Hogg-Dube syndrome 12

305400 Aarkog-Scott syndrome 11

148050 KBG syndrome 11




605130 Wiedemann-Steiner syndrome 10

262600 Pituitary hormone deficiency, combined, 2 10

273750 3-M syndrome 1 10

251270Microcephaly and chorioretinopathy with or without mental retardation

9

142900 Holt-Oram syndrome 9

267000 Perlman syndrome 9

219000 Fraser syndrome 9

114290 Campomelic dysplasia 9

243150 Gastrointestinal defects and immunodeficiency syndrome 9

269150 Schinzel-giedion midface retraction syndrome 9

268300 Roberts syndrome 8

270400 Smith-Lemli-Opitz syndrome 8

615071 Alazami syndrome 8


606854 Polymicrogyria, bilateral frontoparietal 7

107480 Townes-Brocks syndrome 7

257320 Lissencephaly 2 (Norman-Roberts type) 7

21

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

268400 Rothmund-Thomson syndrome 7

300067 Lissencephaly, X-linked 7


614749 Hyperphosphatasia with mental retardation syndrome 2 7


614833 Polymicrogyria with seizures 7


609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

6

152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

6

615510 Alacrima, achalasia, and mental retardation syndrome 6

615582 Rienhoff syndrome 6

276820 Ulna and fibula, absence of, with sever limb deficiency 6

300048 Congenital short bowel syndrome 6

615503 Short-rib thoracic dysplasia 8 with or without polydactyly 6

610954 Pitt-Hopkins syndrome 6

610756 Cerebrooculofacioskeletal syndrome 2 6

218600 Baller-Gerold syndrome 6

259775 Raine syndrome 6


600920 Van den Ende-Gupta syndrome 6


215100 Rhizomelic chondrodysplasia punctata, type 1 6


300831 CK syndrome 6

615419"Hypotonia, infantile, with psychomotor retardation and characteristic facies"

6

239850 Cantu syndrome/ Hypertrichotic osteochondrodysplasia 5

220210 Ritscher-Schinzel syndrome 5

615777 Desbuquois dysplasia 2 5

251290 Band-like calcification with simplified gyration and polymicrogyria 5

210600 Seckel syndrome 1 5


174300 Orofaciodigital syndrome V 5

216400 Cockayne Syndrome A 5

164280 Feingold syndrome 5


251300 Galloway-Mowat syndrome 5

615760Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy

5

300707 STAR syndrome 5


600373 CODAS syndrome 4

607323 Duane-radial ray syndrome / Okihiro syndrome 4


101600 Craniofacial-skeletal-dermatologic dysplasia 4

176270 Prader-Willi syndrome 4

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

300867 Kabuki syndrome 2 4

613684 Rubinstein-Taybi syndrome 2 4


251255Jawad syndrome / Microcephaly with mental retardation and digital anomalies

4

303100 Choroideremia 4

300523 Allan-Herndon-Dudley syndrome 4

612921 3-M syndrome 2 4

613454 Rett syndrome, congenital variant 4

608328 Weill-Marchesani syndrome 2, dominant 4



615547 Schaaf-Yang syndrome 4

261540 Peters-plus syndrome 4

131300 Camurati-Engelmann disease 4

606232 Phelan-McDermid syndrome 4

250400 Metaphyseal dysplasia, Spahr type 4

614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1 4

187600 Thanatophoric dysplasia, type I 4

614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

4

142946 Holoprosencephaly-4 4

615314 Craniosynostosis 3 4

614976 Carpenter syndrome 2 4


615948 Orofaciodigital syndrome XIV 4

615873 Helsmoortel-van der Aa syndrome 3

615398 multiple congenital anomalies-hypotonia-seizures syndrome-3 3

613398 Warsaw breakage syndrome 3

253290 Multiple pterygium syndrome, lethal type 3



604213 Chudley-McCullough syndrome 3

601358 Nicolaides-Baraitser syndrome 3

208150 Fetal akinesia deformation sequence 3

225060 Cleft lip/palate ectodermal dysplasia syndrome 3



609460 Goldberg-Shprintzen megacolon syndrome 3

222765 Chondrodysplasia punctata, rhizomelic, type 2 3

260660 Cousin syndrome 3

603736 Ohdo syndrome, SBBYS variant 3

181450 Ulnar-mammary syndrome 3

258860 Orofaciodigital syndrome iv 3

243310 Baraitser-Winter syndrome 1 3

212720 Martsolf syndrome 3

272430 Cold-induced sweating syndrome 3

250250 Cartilage-hair hypoplasia 3

22

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

616459 Al-Raqad syndrome 3

311300 Otopalatodigital syndrome, type I 3

606170 Genitopatellar syndrome 3

614800 Short stature, optic nerve atrophy, and Pelger-Huet anomaly 3

269250 Schneckenbecken dysplasia 3

604391 Ataxia-telangiectasia-like disorder 3

602482 Axenfeld-Rieger syndrome, type 3 3

609222Dandy-Walker Malformation with occipital cephalocele, autosomal dominant

3

610253 Kleefstra syndrome 3

251450 Desbuquois dysplasia 1 3

616586 Spastic paraplegia 9B, autosomal recessive 3

605039 Bohring-Opitz syndrome 3

115150 Cardiofaciocutaneous Syndrome 1 3

244450 Kaufman oculocerebrofacial syndrome 3


616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

3

615926 Webb-Dattani syndrome 3


309585 Wilson-Turner syndrome 3

300004 Proud syndrome 3

615715 Bone marrow failure syndrome 2 3

616364 White-Sutton syndrome 2

249420 Frank-ter Haar syndrome 2

150250 Larsen syndrome 2


216340 Yunis-Varon Syndrome 2

604757 Craniosynostosis, type 2 2

113100 Brachydactyly, type C 2

218040 Costello syndrome 2

309500 Renpenning Syndrome 1 2

612313 Glass syndrome 2

304110 Craniofrontonasal dysplasia 2

615485 Bainbridge-Ropers syndrome 2

139210 Myhre syndrome 2

245150 Keutel syndrome 2

268310 Robinow syndrome, autosomal recessive 2


183900 Spondyloepiphyseal dysplasia, congenital type 2



182230 Septooptic dysplasia 2

614114 Mosaic variegated aneuploidy syndrome 2 2

277170 Orofaciodigital syndrome VI 2

123500 Crouzon syndrome 2

613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

2

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

610828 Holoprosencephaly-7 2

164200 Oculodentodigital dysplasia 2

602501 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 2

146510 Pallister-Hall syndrome 2

253250 Mulibery nanism 2

610443 Koolen-De Vries syndrome 2

305450 Opitz-Kaveggia syndrome /FG syndrome-1 2

120330 Papillorenal syndrome 2

176670 Hutchinson-Gilford progeria 2

609136 PCWH syndrome 2

602081 Speech-Language Disorder 1 2

305620 Frontometaphyseal dysplasia 2

300960 MEND syndrome 2

309520 Lujan-Fryns syndrome 2

604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 1

603543 Limb-mammary syndrome 1

263750 Miller syndrome 1

603671 Acromelic frontonasal dysostosis 1

201000 Carpenter syndrome 1

616007Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia

1

225500 Ellis-van Creveld syndrome 1


614819 Weill-Marchesani Syndrome 3 1


245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects

1

613078 Nijmegen breakage syndrome-like disorder 1

613330 Spondylo-megaepiphyseal-metaphyseal dysplasia 1

600145Caudal regression syndrome/Sacral defect with anterior meningocele

1

613712 Hirschsprung Disease, Susceptibility To, 4 1


607196 Microcephaly, Amish type 1

616266Congenital contractures of the limbs and face, hypotonia, and developmental delay

1


100300 Adams-Oliver syndrome 1 1

225790Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome

1


129400 Rapp-Hodgkin syndrome 1

154780 Marshall syndrome 1

215150 Otospondylomegaepiphyseal dysplasia 1

101800 Acrodysostosis 1 With Or Without Hormone Resistance 1

605376 Heterotaxy, visceral, 2, autosomal 1

607721 Noonan Syndrome-Like Disorder With Loose Anagen Hair 1

613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction 1

23

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

230740 Gapo syndrome 1

600155 Hirschsprung disease, susceptibility to, 2 1

603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome

1

154500 Treacher collins syndrome 1 1

606217 Atrioventricular septal defect, partial, with heterotaxy syndrome 1

118100 Klippel-feil syndrome 1, autosomal dominant 1

300582 Short stature, idiopathic familial, X-linked 1

156550 Kniest dysplasia 1


263650Popliteal pterygium syndrome 2, lethal type/ Bartsocas-Papas syndrome

1

612918Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

1

601536 Bosley-Salih-Alorainy syndrome 1

239300 Hyperphosphatasia with mental retardation syndrome type 1 1

602849 Muenke syndrome 1

614669 Auriculocondylar syndrome 2 1

151100 LEOPARD syndrome 1 1

600121 Chondrodysplasia punctata, rhizomelic, type 3 1

266280 RAPADILINO syndrome 1

603358 GRACILE syndrome 1

614326 Feingold syndrome 2 1



610536 Mandibulofacial dysostosis, Guion-Almeida type 1

12. Haematological disorders

TOTAL 345

604131 Thalassemia, alpha- 51

613985 Thalassemias, beta- 47

300908 Hemolytic anemia due to G6PD deficiency 38

603903 Sickle cell anemia 28

261100 Megaloblastic anemia-1 22

260400 Shwachman-Bodian-Diamond syndrome 16

306700 Hemophilia A 14



188000 Thrombocytopenia-2 6

274150 Thrombotic thrombocytopenic purpura, familial 6

193400 von Willebrand disease, type 1 6

249270 Thiamine-responsive megaloblastic anemia syndrome 5

217090 Plasminogen deficiency, type I 5

601399 Platelet disorder, familial, with associated myeloid malignancy 5

306900 Hemophilia B 5

227400 Factor V deficiency 4

610035 Severe congenital neutropenia type 5 4

227500 Factor VII Deficiency 4

105650 Diamond-Blackfan anemia 1 3

Disease

Diagnosed cases/

carriers 01/2012 - 06/2016

OMIM Name TOTAL

105600 Dyserythropoietic anemia, congenital, type III 3

202400 Afibrinogenemia, congenital 3

301310 Anemia, Sideroblastic, and Spinocerebellar Ataxia 3

616004 Dysfibrinogenemia, congenital 3

612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy

3

613554 Von Willebrand Disease, Type 2 3


153640 Fechtner syndrome 2


612416 Factor XI deficiency 2

202700 Neutropenia, severe congenital 1, autosomal dominant 2


187800 Bleeding disorder, platelet-type, 16, autosomal dominant 2

613977 Cyanosis, transient neonatal 2

261000 Intrinsic factor deficiency 2

604498 Thrombocytopenia, congenital amegakaryocytic 2

155100 May-Hegglin anomaly 2

227600 Factor X deficiency 2

141749 Delta-beta thalassemia 1

308240 Lymphoproliferative Syndrome, X-Linked, 1 1

614521 Thrombocythemia 3 1

273800 Glanzmann thrombasthenia 1

615631 Dyserythropoietic anemia, congenital, type Ib 1

133100 Erythrocytosis, somatic 1

601977 Thrombocythemia 2 1

614742 Bone marrow failure, telomere-related, 1 1

162800 Neutropenia, cyclic 1



613225 Factor XIIIA deficiency 1

613329 Plasminogen activator inhibitor-1 deficiency 1

300299 Neutropenia, severe congenital, X-linked 1

602782 Histiocytosis-lymphadenopathy plus syndrome 1

21077

centogene report: diagnosed cases of rare diseases at ...€¦ · 125851 maturity-onset diabetes of...

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