CENTOGENE Report: cases of rare diseases at CENTOGENE January 202 to June 206 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 00 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 202 to June 206 of diagnosed cases at CENTOGENE. In that period, CENTOGENE has confirmed more than 2,077 cases. CENTOGENE s American and European accreditations (CAP, CLIA and ISO) confirm our highest quality standards for diagnostic testing and medical reporting. Our partners worldwide June 205 to May 206 Contact details CENTOGENE AG Schillingallee 68 8057 Rostock, Germany www.centogene.com Samples > 2000 50 2000 0 500 5 00 < 50 Customer Service Phone: +9 (0)8 20 652-222 Fax: +9 (0)8 20 652-9 E-Mail: dmqc@centogene.com CLIA #99D20975 V6_August206
Confirmed by disease category 0. Metabolic disorders TOTAL 82 0500 Fabry 25 20800 Gaucher 578 09900 Mucopolysaccharidosis II (Hunter syndrome) 565 2200 Glycogen storage disease II (Pompe) 77 257220 Niemann-Pick disease, type C 98 25000 Mucopolysaccharidosis IVA 77 60705 Mucopolysaccharidosis Ih/s 6 29700 Cystic fibrosis 25000 Metachromatic leukodystrophy 22 25200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 8 2090 Adrenal hyperplasia, congenital, due to 2-hydroxylase deficiency 7 25200 Krabbe disease 82 60605 Propionicacidemia 80 277900 Wilson disease 75 257200 Niemann-Pick disease, type A 7 252900 Mucopolysaccharidosis type IIIA (Sanfilippo A) 72 25260 Biotinidase deficiency 59 28600 Maple syrup urine disease, type Ia 59 20500 GM-gangliosidosis, type I 52 268800 Sandhoff disease, infantile, juvenile, and adult forms 50 259900 Hyperoxaluria, primary, type 9 28600 Maple syrup urine disease, type Ib 8 2075 Very long Chain acyl-coa dehydrogenase deficiency 6 29800 Cystinosis nephropathic 6 252920 Mucopolysaccharidosis type IIIB (Sanfilippo B) 6 266200 Pyruvate kinase deficiency 207900 Argininosuccinic aciduria 2 2680 Glutaric acidemia 2 22600 Glycogen storage disease type V/McArdle disease 0 25000 Methylmalonic aciduria, mut(0) type 9 20500 Ceroid lipofuscinosis, neuronal, 2 8 2670 Glutaricaciduria, type I 6 26900 Dihydrolipoamide dehydrogenase deficiency / MSUD III 6 272800 Tay-Sachs disease 26600 Phenylketonuria 252500 Mucolipidosis II alpha/beta 25700 Citrullinemia 2050 Medium chain acyl-coa dehydrogenase deficiency 2 227650 Fanconi anemia, complementation group A 2 2200 Glycogen storage disease III 60780 Ceroid lipofuscinosis, neuronal, 6 0 28600 Maple syrup urine disease, type II 0 2900 Familial Mediterranean fever, AR 29 27700 Methylmalonic aciduria and homocystinuria, cblc type 29 22200 Glycogen storage disease Ia 29 250 Ornithine transcarbamylase deficiency 28 2500 Isovaleric acidemia 27 25200 Hemochromatosis 26 228000 Farber lipogranulomatosis 26 6092 Surfactant metabolsim dysfunction, pulmonary, 25 220 Carnitine deficiency, systemic primary 25 276700 Tyrosinemia, type I 2 2000 Galactosemia 2 26792 L-2-hydroxyglutaric aciduria 2 60905 Trifunctional protein deficiency 2 890 Hypercholesterolemia, familial 22 272200 Multiple sulfatase deficiency 22 22220 Glycogen storage disease Ib 22 25220 Mucopolysaccharidosis VII 2 2800 Apparent mineralocorticoid excess 2 6087 Cholestasis, progressive familial intrahepatic, 2 2 6027 Cholestasis, progressive familial intrahepatic, 2 2700 Carbamoylphosphate synthetase I deficiency 2 2650 HMG-CoA lyase deficiency 2 2020 -Methylcrotonyl-CoA carboxylase 2 deficiency 20 27200 Sulfite oxidase deficiency 20 2660 Hyperphenylalaninemia, BH-deficient, C 9 2567 Ceroid lipofuscinosis, neuronal, 5 9 2220 Anemia, congenital dyserythropoietic, type I 8 2000 Hypoaldosteronism, congenital, due to CMO I deficiency 8 6096 Combined oxidative phosphorylation deficiency 8 8 26650 Pyruvate carboxylase deficiency 8 20200 Ceroid lipofuscinosis, neuronal, 8 607625 Niemann-pick disease, type C2 7 25290 Mucopolysaccharidosis type IIIC (Sanfilippo C) 7 25520 CPT deficiency, hepatic, type IA 6 600 Ceroid lipofuscinosis, neuronal, 8 5 22065 Congenital disorder of glycosylation, type Ia 5 229700 Fructose-,6-bidphosphatase deficiency 5 76000 Porphyria, acute intermittent 5 25650 Hyperinsulinemic hypoglycemia, familial 5 06000 Glycogen storage disease, type IXa/a2 5 22780 Fanconi-Bickel syndrome 690 Alpha--antitrypsin deficiency 256550 Neuraminidase deficiency 20000 Fucosidosis 20750 Alpha-methylacetoacetic aciduria 6557 Asparagine synthetase deficiency 25650 Galactosialidosis 22500 Glycogen storage disease IV 6095 Ceroid lipofuscinosis, neuronal, 7 0800 Diabetes insipidus, nephrogenic 2
60600 Transaldolase deficiency 6276 Guanidinoacetate methyltransferase deficiency 2 2500 Mucopolysaccharidosis type IVB (Morquio) 2 6576 Congenital disorder of glycosylation, type IIl 2 2585 Maturity-onset diabetes of the young, type 2 2 229600 Fructose intolerance 2 278000 Wolman disease 2 250 Methylmalonic aciduria, cblb type 60766 Niemann-Pick disease, type B 26750 Glycogen storage disease IXb 0 6082 Fanconi anemia, complementation group N 0 60906 long-chain -hydroxyl-coa dehydrogenase deficiency 0 6265 Combined malonic and methylmalonic aciduria 0 28600 Hyperlipoproteinemia, type 9 22700 Glycogen storage disease VI 9 25050 Succinyl CoA:-oxoacid CoA transferase deficiency 9 2200 Anemia, dyserythropoietic congenital, type II 9 60290 Hemochromatosis, type 2A 9 6082 Fanconi anemia, complementation group G 9 600 Hypermethioninemia due to adenosine kinase deficiency 9 250 Hypophosphatasia, childhood 8 26200 Donohue syndrome 8 7920 Maturity-onset diabetes of the young type 5 8 25850 MODY, type I 8 2890 Hypomagnesemia 5, renal, with ocular involvement 8 25250 Molybdenum cofactor deficiency 8 2860 Malonyl-CoA decarboxylase deficiency 8 222700 Lysinuric protein intolerance 6 692 Combined oxidative phosphorylation deficiency 2 6 620 Fish-eye disease 6 6059 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 6 2080 -beta-hydroxysteroid dehydrogenase, type II, deficiency 6 6922 Combined oxidative phosphorylation deficiency 6 0086 Combined oxidative phosphorylation deficiency 6 6 657 Multiple mitochondrial dysfunctions syndrome 6 28800 Crigler-Najjar syndrome, type I 6 607 Congenital disorder of glycosylation, type Ic 6 600 Congenital disorder of glycosylation, type Id 6 0088 Congenital disorder of glycosylation, type Is 5 27980 Succinic semialdehyde dehydrogenase deficiency 5 26290 Rabson-Mendenhall syndrome 5 2680 Periodic fever, familial 5 606 Martinez-Frias syndrome 5 20750 2-aminoadipic 2-oxoadipic aciduria 5 00559 Muscle glycogenosis 5 26680 Phosphoenolpyruvate carboxykinase-, cytosolic, deficiency 5 60992 Aminoacylase deficiency 5 6067 Fanconi anemia, complementation group F 5 6559 Combined oxidative phosphorylation deficiency 7 5 672 Mannose-Binding Protein Deficiency 5 60850 Congenital disorder of glycosylation, type Ik 5 607 Alpha-methylacyl-CoA racemase deficiency 5 28250 Hypomagnesemia, renal 5 20200 -Methylcrotonyl-CoA carboxylase deficiency 5 679 -methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 8 22766 Fanconi anemia, complementation group D2 5 22765 Fanconi anemia, complementation group C 5 25290 Mucopolysaccharidosis type IIID 8 2600 Cholestasis, Progressive Familial Intrahepatic, 8 2500 Methylmalonic aciduria, cbla type 7 60572 Fanconi anemia, complementation group D 7 60069 CPT deficiency, hepatic, type II 7 25670 Ceroid lipofuscinosis, neuronal, 7 666 Methylmalonic aciduria due to transcobalamin receptor defect 7 258900 Orotic aciduria 7 6280 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 7 600 Hypophosphatasia, adult 7 27550 Transcobalamin II deficiency 7 25090 Homocystinuria-megaloblastic anemia, cblg complementation type 7 650 Combined oxidative phosphorylation deficiency 7 7 20900 Bloom syndrome 6 689 Congenital disorder of glycosylation, type IIj 6 28500 Mannosidosis, alpha-, types I and II 6 6205 Congenital disorder of glycosylation, type 6 26700 Porphyria, congenital erythropoietic 6 252650 Mucolipidosis IV 6 60096 Maturity-onset diabetes of the young type 5 259 Lacticacidemia due to PDX deficiency 5 2660 Hyperphenylalaninemia, BH-deficient, A 2200 Mitochondrial complex IV deficiency 0052 Cerebral creatine deficiency syndrome 60798 Glucocorticoid deficiency 2 6027 Glycogen storage disease IXc 76200 Porphyria variegata 20500 Tangier disease 2850 Mannosidosis, Beta A, Lysosomal 2520 Mitochondrial complex II deficiency 626 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of 6092 Schindler disease, type I, III 679 Combined oxidative phosphorylation deficiency 5 222900 Sucrase-isomaltase deficiency, congenital 60905 Fanconi anemia, complementation group I 00896 Congenital disorder of glycosylation, type IIm 270 Pyruvate dehydrogenase E-alpha deficiency 627 Lipodystrophy, congenital generalized, type
6 Pyruvate dehydrogenase E-beta deficiency 66 GABA-transaminase deficiency 6027 Ceroid lipofuscinosis, neuronal, 0 602079 Trimethylaminuria 27050 Insulin-like growth factor I, resistance to 60600 Hypoaldosteronism, congenital, due to CMO II deficiency 27560 Chanarin-Dorfman syndrome 25850 -methylglutaconic aciduria, type III 25270 Holocarboxylase synthetase deficiency 60250 Hemochromatosis, type 6552 Triosephosphate isomerase deficiency 6085 Phosphoglycerate dehydrogenase deficiency 6582 Combined oxidative phosphorylation deficiency 9 606056 Congenital disorder of glycosylation, type IIb 226200 Enterokinase deficiency 60709 Congenital disorder of glycosylation, type IId 20200 Adrenal Hyperplasia, Congenital, Due To Steroid -Beta- Hydroxylase Deficiency 608 Fanconi anemia, complementation group L 60676 Diabetes mellitus, permanent neonatal 6087 Fanconi anemia, complementation group M 22278 Dihydropyrimidinase deficiency 65578 Combined oxidative phosphorylation deficiency 8 602579 Congenital disorder of glycosylation, type Ib 6597 Combined oxidative phosphorylation deficiency 20 607 Congenital disorder of glycosylation, type Ig 65596 Congenital disorder of glycosylation, type Iw 6058 Citrullinemia, type II, neonatal-onset 60692 Maturity-Onset Diabetes Of The Young, Type 2585 Diabetes mellitus, noninsulin-dependent / Diabetes mellitus, type II 60982 Maturity-onset diabetes of the young, type VIII 26650 PEPCK deficiency, mitochondrial 6698 Combined oxidative phosphorylation deficiency 2 606069 Hemochromatosis, type 6005 Glutamine deficiency, congenital 27270 Dihydropyrimidine dehydrogenase deficiency 6557 Mitochondrial complex III deficiency, nuclear type 2 6287 Erythrocyte amp deaminase deficiency 0700 Glycerol kinase deficiency 6752 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 66095 Monocarboxylate transporter deficiency 607765 Bile acid synthesis defect, congenital, 29500 Cystathioninuria 6080 Congenital disorder of glycosylation, type Ih 607 Citrullinemia, Type Ii, Adult-Onset 0050 Adenylosuccinase deficiency 692 Congenital disorder of glycosylation, type It 2 26270 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 2 26570 Polyglucosan body disease, adult form 2 60905 Fanconi anemia, complementation group J 2 6972 Cholestasis, intrahepatic, of pregnancy, 2 2770 Methylmalonic aciduria and homocystinuria, cbld type 2 666 Diarrhea type 6 2 6857 Methylmalonic aciduria and homocystinuria, cblj type 2 6582 Combined D-2- and L-2-hydroxyglutaric aciduria 2 60886 CPT II deficiency, lethal neonatal 2 60776 Hypercholesterolemia, Autosomal Dominant, 2 6558 Mitochondrial complex III deficiency, nuclear type 2 26520 Surfactant metabolism dysfunction, pulmonary, 2 20800 Aspartylglucosaminuria 2 2500 Hartnup disorder 2 606785 Crigler-Najjar syndrome, type II 2 60682 Fumarase deficiency 2 5980 Hypocalciuric hypercalcemia, type I 2 6 Hemochromatosis, type 2B 2 6000 Hypochondroplasia 2 77000 Protoporphyria, erythropoietic, autosomal recessive 2 250800 NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY 2 258 Pyruvate dehydrogenase E2 deficiency 2 629 Glycogen storage disease XI 2 00 Hypercholesterolemia, Autosomal Dominant, Type B 2 60508 Maturity-onset diabetes of the young, type VII 2 6069 Maturity-onset diabetes of the young 6 2 6279 Congenital disorder of glycosylation, type Iq 2 606762 Hyperinsulinemic Hypoglycemia, Familial, 6 2 60665 OBESITY 2 250950 -methylglutaconic aciduria, type I 2 600 Diabetes mellitus, transient neonatal, 2 6292 Glycogen storage disease XIII 2 657 Disordered Steroidogenesis Due To Cytochrome P50 Oxidoreductase Deficiency 6702 Combined oxidative phosphorylation deficiency 0 60820 Hyperinsulinemic hypoglycemia, familial, 2 6092 Mucopolysaccharidosis type IX 005 Fanconi anemia, complementation group B 20500 Alkaptonuria 266500 Refsum disease 2670 Glycogen storage disease of heart, lethal congenital 6000 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 25800 Diabetes Insipidus, Nephrogenic, Autosomal 652 Tyrosine kinase 2 deficiency 608776 Congenital disorder of glycosylation, type Il 6069 maturity-onset diabetes of the young 252900 Mucopolysaccharidisis type IIIA (Sanfilippo A) 880 Hypercalcemia, infantile
270 N-acetylglutamate synthase deficiency 22800 Glycogen storage disease VII 55000 Merrf Syndrome / Myoclonic epilepsy associated with ragged-red fibers 008 7-beta-hydroxysteroid dehydrogenase X deficiency 26670 Glycogen storage disease X 607906 Congenital disorder of glycosylation, type Ii 22275 2,-Dienoyl-Coa Reductase 60768 Congenital disorder of glycosylation, type Im 28700 Hyperlysinemia 02. Neurological disorders TOTAL 508 625 Tuberous sclerosis-2 2500 Spinal muscular atrophy- 8 2690 Chronic granulomatous disease, autosomal, due to deficiency of CYBA 208900 Ataxia-telangiectasia 78 8260 Spastic paraplegia, autosomal dominant 7 29750 Cystinosis, ocular nonnephropathic 688 Glycogen storage disease XII 276600 Tyrosinemia, type II 2070 Acyl-CoA dehydrogenase, short-chain, deficiency 609826 Hypophosphatemic rickets with hypercalciuria 2660 Glutathione synthetase deficiency 6962 Leptin deficiency 60090 Fanconi anemia, complementation group E 695 Fanconi anemia, complementation group P 6098 -methylglutaconic aciduria, type 5 252605 Mucolipidosis III gamma 605 Methylmalonate semialdehyde dehydrogenase deficiency 697 Combined oxidative phosphorylation deficiency 5 20000 Abetalipoproteinemia 0200 Duchenne muscular dystrophy 65 0000 Adrenoleukodystrophy 62 256000 Leigh syndrome 62 25600 Nemaline myopathy 2, autosomal recessive 59 08500 Episodic ataxia, type 2 58 6060 Spastic paraplegia, autosomal recessive 56 25090 Ullrich congenital muscular dystrophy 55 607855 Muscular dystrophy, congenital merosin-deficient A 50 255700 Myotonia congenita, recessive 50 6027 Neurodegeneration with brain iron accumulation 2B 8 607208 Dravet syndrome 8 900 Tuberous sclerosis- 5 607 Spinocerebellar ataxia, autosomal recessive 8 5 25200 Mitochondrial complex I deficiency 2020 Adrenal Hyperplasia, Congenital, Due To 7-Alpha-Hydroxylase Deficiency 6006 Parkinson disease, juvenile, type 2 7000 Central core disease 5 228 Carnitine-acylcarnitine translocase deficiency 60285 Hyperinsulinemic hypoglycemia, familial, 2700 Diarrhea, secretory chloride, congenital 00770 Surfactant metabolism dysfunction, pulmonary, 665 Joubert syndrome 7 00 Huntington disease 270550 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 26600 Epilepsy, pyridoxine-dependent 56070 Mitochondrial Complex V (ATP synthase) deficiency, mitochondrial type 2 26550 Cohen syndrome 2560 Muscular dystrophy, limb-girdle, type 2B 250 -hydroxyacyl-coa dehydrogenase deficiency 6508 Mitochondrial dna depletion syndrome 2500 Hypophosphatasia, infantile 608099 Muscular dystrophy, limb-girdle, type 2D 60900 Myotonic dystrophy 607259 Spastic paraplegia 7, autosomal recessive 0 2500 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 280 Temtamy syndrome 29 608 Aicardi-Goutieres syndrome 2 29 670 Maturity-onset diabetes of the young, type 0 66277 Mitochondrial short-chain enoyl-coa hydratase deficiency 675 Maturity-onset diabetes of the young, type 682 Congenital disorder of glycosylation, type IIh 6629 Maturity-onset diabetes of the young, type 6020 Hypomagnesemia, intestinal 2700 Urbach-Wiethe disease 2050 Galactose epimerase deficiency 009 Congenital disorder of glycosylation, type Iy 202200 Glucocorticoid Deficiency 60682 Glucose/galactose malabsorption 2600 Pseudohermaphroditism, male, with gynecomastia 6078 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamineresponsive encephalopathy type 2) 25600 Muscular dystrophy, limb-girdle, type 2A 27 60755 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 27 0520 Familial transthyretin amyloidosis 27 6088 Joubert syndrome 5 27 5600 Malignant hyperthermia susceptibility 27 60896 Leukoencephaly with vanishing white matter 27 600 Epilepsy, generalized, with febrile seizures plus, type 2 27 22820 Hereditary diffuse leukoencephalopathy with spheroids 26 05550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 26 256600 Infantile neuroaxonal dystrophy 26 27 5
657 Mitochondrial DNA depletion syndrome (encephalomyopathic type) 25 607060 Parkinson disease 8 5 608629 Joubert syndrome 5 22900 Friedreich ataxia 25 5880 Bethlem myopathy 25 0062 Fragile X mental retardation syndrome 25 27900 Canavan disease 25 200 Zellweger syndrome 2 209850 autism 2 270700 Spastic paraplegia 5, autosomal recessive 2 6028 Migraine, familial hemiplegic, 2 2 0076 Becker muscular dystrophy 2 65286 Mental retardation, autosomal recessive 6 2 6080 Infection-induced acute encephalopathy- 22 20700 Mitochondrial DNA depletion syndrome A (Alpers type) 2 6069 Salla disease 2 6206 Spinocerebellar ataxia, autosomal recessive 9 2 6500 Spastic paraplegia 56, autosomal recessive 2 606658 Spinocerebellar ataxia 5 2 6089 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 6056 Spinocerebellar ataxia 2 609260 Charcot-Marie-Tooth disease, type 2A2 2 2820 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 6295 Parkinson disease 20 629 Spastic paraplegia 5, autosomal recessive 20 6862 Peroxisome biogenesis disorder A (Zellweger) 20 672 Epileptic encephalopathy, early infantile, 20 60507 Segawa syndrome, recessive 9 270200 Sjogren-Larsson syndrome 9 602629 Dystonia 6, torsion 9 8220 Charcot-Marie-Tooth disease, type A 9 2050 Alexander disease 9 28200 Episodic kinesigenic dyskinesia 9 59900 Dystonia, myoclonic 8 606002 Spinocerebellar ataxia, autosomal recessive 7 62500 Neuropathy, recurrent, with pressure palsies 7 665 Joubert syndrome 6 7 60596 Charcot-Marie-Tooth disease, type C 7 2 2 2700 Cerebrotendinous xanthomatosis 5 606777 GLUT deficiency syndrome 5 60 Aicardi-Goutieres syndrome 5 6562 Mental retardation, autosomal dominant 2 5 900 Hyperekplexia, hereditary, autosomal dominant or recessive 5 2200 Seizures, benign neonatal, 60022 Spinocerebellar ataxia 5 6087 Spastic paraplegia 0, autosomal dominant 29900 Metachromatic leukodystrophy due to SAP-b deficiency 02800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 65905 Epileptic encephalopathy, early infantile, 25 2500 Myasthenic syndrome, congenital, 0 27770 Pontocerebellar hypoplasia type 2A 25880 Mitochondrial DNA depletion syndrome (hepatocerebral type) 672 Muscular dystrophy, limb-girdle, type 2Q 7000 Hypokalemic periodic paralysis, type 000 Alzheimer 662 Epileptic encephalopathy, early infantile, 28 200 Joubert syndrome 6895 Charcot-Marie-Tooth disease, type F 600 Endplate acetylcholinesterase deficiency / Congenital myasthenic syndrome type C 256800 Insensitivity to pain, congenital, with anhidrosis 6566 Joubert syndrome 2 6027 Ethylmalonic encephalopathy 65290 Spinal muscular atrophy, lower extremity-predominant, 2, AD 2 6056 Spastic paraplegia 8, autosomal dominant 2 6859 Peroxisome biogenesis disorder A (Zellweger) 2 25680 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2 256850 Giant axonal neuropathy- 2 00672 Epileptic encephalopathy, early infantile, 2 2 220 Leigh syndrome, French-Canadian type 2 602 Epileptic encephalopathy, early infantile, 0 2 608807 Muscular dystrophy, limb-girdle, type 2J 270800 Spastic paraplegia 5A, autosomal recessive 60286 Muscular dystrophy, limb-girdle, type 2E 60250 Spastic paraplegia, autosomal dominant 602668 Myotonic dystrophy 2 6 6020 Spinal muscular atrophy, distal, autosomal recessive 6 60759 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 602 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 6 62285 Joubert syndrome 9 6 6000 Megalencephalic leukoencephalopathy with subcortical cysts 6 22050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 608768 Spinocerebellar ataxia 8 5 60800 Myotonia congenita, dominant 5 6 60769 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 2800 Dystonia, torsion 68 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 692 Mental retardation, autosomal recessive 0600 Coffin-Lowry syndrome 20 Peroxisome biogenesis disorder 2A (Zellweger) 0 6
6298 Neurodegeneration with brain iron accumulation 0 500 Migraine, familial hemiplegic, 0 2080 Pelizaeus-Merzbacher disease 0 658 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 0 605909 Parkinson disease 6, early onset 0 6876 Peroxisome biogenesis disorder 8A, (Zellweger) 0 255800 Schwartz-Jampel syndrome, type 0 62952 Aicardi-Goutieres syndrome 5 0 60785 Frontotemporal lobar degeneration with ubiquitin-positive inclusions 07000 Hydrocephalus, due to congenital stenosis of aqueduct of Sylvius 0 65828 Mental retardation, autosomal dominant 2 0 622 Leukodystrophy, hypomyelinating, 0 58900 Facioscapulohumeral muscular dystrophy 0 6206 Spastic paraplegia, autosomal recessive 9 6026 Spinocerebellar ataxia 28 9 620 Muscular dystrophy, congenital, due to ITGA7 deficiency 9 600 Oculopharyngeal muscular dystrophy 9 6259 Spastic paraplegia 2, autosomal dominant 9 200 Oral-facial-digital syndrome 9 659 Mental retardation, autosomal recessive 7 9 00868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 9 6025 Spinocerebellar ataxia 2 9 275900 Spastic paraplegia 20, autosomal recessive 9 226670 Muscular dystrophy with epidermolysis bullosa simplex 9 82600 Spastic paraplegia A, autosomal dominant 9 200 Charcot-Marie-Tooth disease, type A 9 0009 Heterotopia, periventricular / X-linked periventricular heterotopia 9 609 Charcot-Marie-Tooth disease, type H 9 50000 Kearns-Sayre Syndrome 9 6287 Charcot-Marie-Tooth disease, axonal, type 2N 9 2825 Dystonia 2 9 25570 Epilepsy, focal, with speech disorder and with or without mental retardation 6226 GLUT deficiency syndrome 2 9 0 9 5760 Progressive external ophthalmoplegia, autosomal dominant 8 6620 Spinocerebellar ataxia, autosomal recessive 8 8 609 Mental retardation, autosomal recessive 7 8 00000 Opitz GBBB syndrome, X-linked 8 2670 Peroxisomal acyl-coa oxidase deficiency 8 626 Epileptic encephalopathy, early infantile, 8 628 Leukodystrophy, hypomyelinating, 6 8 6720 Epileptic encephalopathy, early infantile, 7 8 70500 Hyperkalemic periodic paralysis, type 2 8 6090 Epileptic encephalopathy, early infantile, 8 6959 Epileptic encephalopathy, early infantile, 8 668 Hyperekplexia 8 0022 Lesch-Nyhan syndrome 8 60880 Leukodystrophy, hypomyelinating, 2 /Pelizaeus-Merzbacher-like disease, 6655 Charcot-Marie-Tooth disease, axonal, type 2S 8 26670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6057 Spastic paraplegia 0, autosomal recessive 7 25800 Walker-Warburg syndrome / Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A 600 Mitochondrial DNA depletion syndrome (MNGIE type) 7 607 Muscular dystrophy, limb-girdle, type 2L 7 6887 Peroxisome biogenesis disorder A (Zellweger) 7 6908 Spinocerebellar ataxia 5 7 60805 Spastic paraplegia 2, autosomal dominant 7 8086 Spinocerebellar ataxia 6 7 6678 Pontocerebellar hypoplasia, type B 7 25280 Muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A 000 Myotubular myopathy, X-linked 7 6872 Peroxisome biogenesis disorder 7A (Zellweger) 7 22770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy / Nasu-Hakola disease 8 7 7 7 7 208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9 6077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 7 0500 Amyotrophic lateral sclerosis 9 095 Mental retardation, X-linked (methylmalonic acidemia and homocysteinemia, cblx type ) 2200 Neurodegeneration with brain iron accumulation 8 60908 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, / Muscular dystrophy limb-girdle, type 2K 22575 Pontocerebellar hypoplasia type 8 62780 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance 00659 Mental retardation, X-linked 9 8 25700 Muscular dystrophy, limb-girdle, type 2C 8 8 8 8 6800 Myopathy, nemaline, 7 68 Porencephaly 2 7 605 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 6228 Charcot-Marie-Tooth disease, axonal, type 20 7 8200 Charcot-Marie-Tooth disease, type B 7 00088 Epileptic encephalopathy, early infantile, 9 7 6082 Charcot-Marie-Tooth disease, type B 7 20050 Choreoacanthocytosis 7 0080 Joubert syndrome 0 7 69500 Leukodystrophy, adult-onset, autosomal dominant 7 7 7
6569 Epileptic encephalopathy, childhood-onset 7 820 Charcot-Marie-Tooth disease, type 2A 7 6205 Muscular dystrophy, congenital 6 006 Mental retardation, X-linked 6 6 60952 Myopathy, myofibrillar, 6 6556 Mental retardation, autosomal recessive 8 6 6879 Peroxisome biogenesis disorder 9B 6 006 Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked 60669 Parkinson disease 9 6 22900 Neuropathy, hereditary sensory and autonomic, type III 6 0092 Mental retardation, X-linked 98 6 255200 Myopathy, centronuclear 6 6076 Spinocerebellar ataxia 7 6 6090 Spastic paraplegia 28, autosomal recessive 6 276880 Urocanase deficiency 6 609 Myopathy, myofibrillar, 6 60952 Myopathy, myofibrillar, 5 6 200990 Joubert syndrome 2 6 20500 Amyotrophic lateral sclerosis 2, juvenile 6 0079 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 25800 Epilepsy, progressive myoclonic A (Unverricht and Lundborg) 6 692 Epilepsy, Childhood Absence, Susceptibility To, 6 6 602 Epilepsy, generalized, with febrile seizures plus, type 6 6925 Megalencephalic leukoencephalopathy with subcortical cysts 2A 6 6056 Charcot-Marie-Tooth disease, type B2 6 607822 Alzheimer disease, type 6 28000 Agenesis of the corpus callosum with peripheral neuropathy 6 6277 Generalized Epilepsy With Febrile Seizures Plus, Type 6 6860 Dystonia 2 6 6558 Epileptic encephalopathy, early infantile, 6 686 Epilepsy, generalized, with febrile seizures plus, type 7 6 6626 Myasthenic syndrome, congenital,, associated with acetylcholine receptor deficiency 6068 Neurodegeneration due to cerebral folate transport deficiency 5 6627 Spinocerebellar ataxia, autosomal recessive 7 5 6800 Paramyotonia congenita 5 0950 Spinocerebellar ataxia 5 2520 Myasthenic syndrome, congenital, associated with episodic apnea 5 60287 Muscular dystrophy, limb-girdle, type 2F 5 62020 Spastic paraplegia 9, autosomal recessive 5 60555 Nemaline myopathy 5, Amish type 5 6062 Myasthenic syndrome, slow-channel congenital 5 0089 Neurodegeneration with brain iron accululation 5 5 9050 Williams-Beuren syndrome 5 720 Spinocerebellar ataxia 5 6 6 5 60575 Seizures, benign familial infantile, 2 5 6500 Spinocerebellar ataxia 7 5 666 Mental retardation, autosomal recessive 6 5 68 Spinocerebellar ataxia, autosomal recessive 5 698 Myasthenic syndrome, acetazolamide-responsive 5 2870 Simpson-Golabi-Behmel syndrome, type 5 656 Neurodegeneration with brain iron accumulation 6 5 60687 Nemaline Myopathy 7 5 6886 Peroxisome biogenesis disorder 2A (Zellweger) 5 60880 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 602 Spinocerebellar ataxia 5 005 Mental retardation, X-linked, syndromic, Claes-Jensen type 5 605259 Spinocerebellar ataxia 5 56200 Mental retardation, autosomal dominant 5 6055 Charcot-Marie-Tooth disease, type D 5 605589 Charcot-Marie-Tooth disease, type 2B2 5 608 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 2660 Coach syndrome 5 250 Dystonia-Parkinsonism, X-linked 5 6820 Alternating hemiplegia of childhood 2 5 695 Amyotrophic lateral sclerosis, with or without frontotemporal dementia 6072 Charcot-Marie-Tooth disease, type 2D 5 607628 Epilepsy, Idiopathic Generalized, Susceptibility To, 5 2000 Insensitivity to pain, channelopathy-associated 5 6299 Cerebroretinal microangiopathy with calcifications and cysts 5 6560 Joubert syndrome 7 5 607678 Charcot-Marie-Tooth, Demyelinating, Type D 5 6020 Episodic ataxia/myokymia syndrome 5 6029 Aicardi-Goutieres syndrome 5 655 Myopathy due to myoadenylate deaminase deficiency 6529 600229 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Spastic tetraplegia, thin corpus callosum and progressive microcephaly 60826 Slowed nerve conduction velocity, AD 277580 Waardenburg syndrome, type A 60662 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 620 Parkinson disease 7 6920 Peroxisome biogenesis disorder B 6550 Parkinson disease 20, early-onset 80860 Silver-Russell syndrome 609 Mental retardation, autosomal recessive 5 8090 Spinocerebellar ataxia 2 606072 Rippling muscle disease 5 5 5 8
6062 Parkinson disease 7, autosomal recessive early-onset 652 Pontocerebellar hypoplasia, type 6 65 Parkinsonism-dystonia, infantile 65809 Pontocerebellar hypoplasia, type 9 0087 Mental retardation, X-linked 6 02500 pinocerebellar ataxia, X-linked 650 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 2550 Myopathy due to CPT II deficiency 0950 Mental retardation, X-linked 270685 Spastic paraplegia 7, autosomal dominant 600 Tibial muscular dystrophy, tardive 6662 Mitochondrial DNA depletion syndrome B (MNGIE type) 65287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 255995 Native american myopathy 6096 Migraine, familial hemiplegic, 6588 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 005 Mental retardation, X-linked, syndromic 5 (Cabezas type) 650 Spastic paraplegia 5, autosomal recessive 65802 Mental retardation, autosomal recessive 2 8800 Paroxysmal nonkinesigenic dyskinesia 60958 Joubert syndrome 608 Mental retardation, autosomal recessive 5900 Dejerine-Sottas disease 62999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 606889 Alzheimer disease, type 606 Epilepsy, familial focal, with variable foci 65 Cortical malformations, occipital 6860 Parkinson disease 65 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 65829 Xia-Gibbs syndrome 655 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6095 Muscular dystrophy, limb-girdle, type 2G 6882 Peroxisome biogenesis disorder 0A (Zellweger) 60890 Myasthenic syndrome, fast-channel congenital 00928 Mental retardation, X-linked 0 6586 Spinocerebellar ataxia, autosomal recessive 00850 Mental retardation, X-linked 90 2550 Myopathy, congenital, with fiber-type disproportion 60928 Nemaline myopathy, autosomal dominant or recessive 602 Spastic ataxia 2, autosomal recessive 657 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 607596 Pontocerebellar Hypoplasia, Type A 67 Spastic paraplegia 5, autosomal recessive 6076 Spinocerebellar ataxia 9 6866 Peroxisome biogenesis disorder 5A (Zellweger) 60907 Spinocerebellar ataxia 27 6085 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 6870 Peroxisome biogenesis disorder 6A (Zellweger) 760 Spinocerebellar ataxia 29, congenital nonprogressive 6607 Mental retardation, autosomal dominant 607669 Spastic paraplegia 6, autosomal recessive 65268 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 6207 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) 60607 Hereditary motor and sensory neuropathy, type IIc 605 Cerebral palsy, spastic quadriplegic, 65859 Early infantile epileptic encephalopathy 677 Epileptic encephalopathy, early infantile, 5 6068 Congenital cataracts, facial dysmorphism, and neuropathy 6082 Charcot-Marie-Tooth disease, dominant intermediate C 2655 D-bifunctional protein deficiency 605 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6567 Mental retardation, autosomal recessive 28900 Spastic paraplegia-2, autosomal recessive 6556 Muscular dystrophy, limb-girdle, type 2S 0065 Phosphoglycerate kinase deficiency 6050 Myopathy, centronuclear 66867 Spinal muscular atrophy with congenital bone fractures 2 60800 Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia 6705 Myopathy, early-onset, with fatal cardiomyopathy 6628 Mental retardation, autosomal recessive 9 60027 Dementia, frontotemporal 002 FG syndrome 2 6576 Mental retardation, autosomal dominant 2 0062 Fragile X tremor/ataxia syndrome 0580 Angelman syndrome 605 Hereditary sensory neuropathy type IID 6728 Spinocerebellar ataxia, autosomal recessive 0 60758 Spinocerebellar ataxia 8 82290 Smith-Magenis syndrome 6265 Waardenburg syndrome, type B 68 Pontocerebellar hypoplasia type 2D 050 Spastic paraplegia, X-linked 6520 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 250 Miyoshi muscular dystrophy 6580 Pontocerebellar hypoplasia, type 0 67 Amyotrophic lateral sclerosis 6, juvenile 60575 Epilepsy, nocturnal frontal lobe, 9
66 Charcot-Marie-Tooth disease, recessive intermediate, B 00799 Mental Retardation, X-Linked, Syndromic, Raymond Type 2 6227 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 66 Neuropathy, hereditary sensory, type IE 2 6076 Neuronopathy, Distal Hereditary Motor, Type Viib 2 66875 Cerebellar atrophy, visual impairment, and psychomotor retardation 606688 Prion disease with protracted course 2 0099 X-linked mental retardation-99 2 607677 Charcot-Marie-Tooth disease, type 2I 27760 Ataxia with isolated vitamin E deficiency 66056 Epileptic encephalopathy, early infantile, 26 260600 Leukodystrophy, hypomyelinating, 6688 Hereditary sensory and autonomic neuropathy type 8 688 Craniosynostosis and dental anomalies 6586 Aicardi-Goutieres syndrome 7 6507 Dystonia 25 6090 Ataxia, posterior column, with retinitis pigmentosa 60 Mental retardation, autosomal recessive 27 26600 Hydrocephalus, nonsyndromic, autosomal recessive 27000 Kenny-Caffey syndrome, type 2 6529 Hydrocephalus, nonsyndromic, autosomal recessive 2 680 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 669 Epileptic encephalopathy, early infantile, 27 6576 Cortical dysplasia, complex, with other brain malformations 5 6528 Hypomyelination with brainstem and spinal cord involvement and leg spasticity 660 Leukodystrophy, hypomyelinating, 9 200990 Acrocallosal syndrome 60500 Liang distal myopathy 0095 Autism, Susceptibility To, X-Linked 2 60098 Charcot-Marie-Tooth disease, type C 66 Charcot-Marie-Toothe disease, axonal, type 2P 6077 Charcot-Marie-Tooth disease, type F 658 Early infantile epileptic encephalopathy type 2 6255 Mental retardation, autosomal dominant 9 6690 Joubert syndrome 2 6096 Generalized epilepsy and paroxysmal dyskinesia 690 Epilepsy, hearing loss, and mental retardation syndrome 000 Emery-Dreifuss muscular dystrophy, X-linked 6500 Aicardi-Goutieres syndrome 6 0080 Mental retardation, X-linked 97 2 00802 Mental retardation, X-linked 96 2 2725 Spinocerebellar ataxia, infantile-onset 2 00958 Mental retardation, X-linked 02 2 550 Visceral myopathy 2 2920 Spastic paraplegia 2, X-linked 2 6056 Spinocerebellar ataxia 0 2 200 Spinal and bulbar muscular atrophy of Kennedy 2 0027 Mental retardation, X-linked 72 2 602 Spastic paraplegia, autosomal dominant 2 002 Mental Retardation, X-Linked, Syndromic, Christianson Type 2 60780 Muscular dystrophy, limb-girdle, type IC 2 605820 Nonaka myopathy 2 26000 Parkinson disease 5, autosomal recessive 2 60277 Rigid Spine Muscular Dystrophy 2 6807 Myopathy, centronuclear, 2 00 Mental Retardation, X-Linked 2 2 608097 Periventricular heterotopia with microcephaly 2 6067 Spinal muscular atrophy, distal, autosomal recessive, 2 00699 Mental Retardation, X-Linked, Syndromic, Wu Type 2 6002 Pitt-Hopkins like syndrome 2 08600 Spastic ataxia, autosomal dominant 2 00706 Mental retardation, X-linked syndromic, Turner type 2 66282 Spastic paraplegia 7, autosomal dominant 2 2500 Spinal muscular atrophy- 2 6585 Pontocerebellar hypoplasia, type 2E 2 80 Scapuloperoneal syndrome, myopathic type 2 6075 spinocerebellar ataxia 2 2 65 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 669 Peripheral neuropathy, myopathy, hoarseness, and hearing loss 2 655 Charcot-Marie-Tooth disease, dominant intermediate E 2 6652 Coenzyme Q0 deficiency, primary, 2 65075 Mental retardation, autosomal dominant 9 2 25780 Epilepsy, progressive myoclonic 2A (Lafora) 2 62269 Epilepsy, Childhood Absence, Susceptibility To, 5 2 70 Gerstmann-Straussler disease 2 66789 Mental retardation and distinctive facial features with or without cardiac defects 25780 Epilepsy, progressive myoclonic 2B (Lafora) 2 60 Mental retardation, autosomal dominant 7 2 60762 Griscelli syndrome, type 2 2 226750 Kohlschutter-Tonz syndrome 2 25900 Epilepsy, progressive myoclonic, with or without renal failure 2 65282 Cortical dysplasia, complex, with other brain malformations 2 2 67 Epilepsy, familial temporal lobe, 5 2 200 Creutzfeldt-Jakob disease 2 0850 Epileptic encephalopathy, early infantile, 2 66268 Mental retardation, autosomal dominant 2 6527 Ataxia-oculomotor apraxia 2 6262 Mental retardation, autosomal dominant 5 2 606595 Charcot-Marie-Tooth disease, axonal, type 2F 2 60726 Coenzyme Q0 deficiency, primary, 2 2 2 0
6722 Epileptic encephalopathy, early infantile, 2 2 6666 Epileptic encephalopathy, early infantile, 2 2 62998 Emery-Dreifuss muscular dystrophy, autosomal dominant 2 280 Dystonia, torsion, autosomal dominant 2 6078 Charcot-Marie-Tooth disease, axonal, type 2K 2 0072 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 6200 Autism susceptibility 5 2 62067 Dystonia 6 2 65 Hypokalemic periodic paralysis, type 2 2 62577 Amyotrophic lateral sclerosis 2 60077 Inclusion body myopathy, autosomal recessive 2 60887 Malignant hyperthermia susceptibility 5 2 6228 Charcot-Marie-Tooth disease, type J 2 6670 Mental retardation with language impairment and with or without autistic features 225750 Aicardi-Goutieres syndrome, dominant and recessive 2 6507 Mental retardation, autosomal dominant 8 2 65025 Charcot-Marie-Tooth disease, axonal, type 2Q 2 6276 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 2 8700 Chorea, Benign Hereditary 2 6970 Mental retardation, autosomal dominant 6 2 67 Joubert syndrome 2 62 Joubert syndrome 2 629 Mental retardation, autosomal recessive 8 2 00852 Mental retardation, X-linked 88 2000 Neuropathy, hereditary sensory and autonomic, type II 6067 Spastic paraplegia 52, autosomal recessive 2 2 60659 Neurodegeneration with brain iron accumulation 600 Spinocerebellar ataxia 66756 Spastic Paraplegia and Psychomotor Retardation with or without Seizures 200 Perrault syndrome 20270 Peroxisome biogenesis disorder 2B 6026 Spinocerebellar ataxia 2 6229 Spinocerebellar ataxia, autosomal recessive 950 Waardenburg syndrome, type 2A 65528 Parkinson disease 9, juvenile-onset 6508 Mirror movements 2 5900 Muscular dystrophy, limb-girdle, type B 609285 Nemaline myopathy, autosomal dominant 605280 Spastic paraplegia, autosomal dominant 609 Spastic paraplegia 6, autosomal recessive 60928 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2 6652 Mental retardation, autosomal dominant 9 605 Muscular dystrophy, limb-girdle, type E 58600 Spinal muscular atrophy, lower extremity-predominant, AD 600795 Dementia, familial, nonspecific 6655 Mental Retardation, Autosomal Dominant 5 6609 Mental retardation, autosomal dominant 6 60052 Epilepsy, familial temporal lobe, 60768 Epilepsy, Childhood Absence, Susceptibility To, 2 602 Amyotrophic lateral sclerosis, juvenile 850 Emery-Dreifuss muscular dystrophy 2 665 Coenzyme Q0 deficiency, primary, 5 6 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 6 Mental retardation, autosomal dominant 2 66280 Charcot-Marie-Tooth disease, axonal, type 2U 68605 Perry syndrome 6885 Peroxisome biogenesis disorder B 009 Mental Retardation, X-Linked, With Or Without Seizures, Arx- Related 6025 Muscular dystrophy, congenital, megaconial type 6096 Striatal degeneration, autosomal dominant 6006 Spastic paraplegia 6, autosomal dominant 00577 Mental retardation, X-linked 9 6052 Myasthenic Syndrome, Congenital, With Tubular Aggregates 0020 Mental retardation, X-linked 58 59000 Muscular dystrophy, limb-girdle, type A 220 Seizures, Benign Familial Neonatal, 2 65 Spinocerebellar ataxia 6 2000 Mitochondrial complex III deficiency, nuclear type 65625 Spastic paraplegia 72 7200 Neuromyotonia and axonal neuropathy, autosomal recessive 608027 Pontocerebellar hypoplasia, type 62075 Mitochondrial DNA depletion syndrome 8A 250 Brown-Vialetto-Van Laere syndrome 0520 Amyloidosis, finnish type 020 Erythermalgia, primary 25770 Epilepsy, myoclonic juvenile 669 Hyperekplexia 2, autosomal recessive 688 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 656 Mental retardation, autosomal dominant 60670 Dyskinesia, familial, with facial myokymia 66 Joubert syndrome 5 0057 Heterotopia, periventricular, ED variant 2570 Dentatorubro-pallidoluysian atrophy 60867 Charcot-Marie-Tooth disease, axonal, type 2L 685 Joubert syndrome 8 622 Encephalopathy, acute, infection-induced, 65866 Mental retardation, autosomal dominant, 27 6068 Huntington disease-like 2 6609 Charcot-Marie-Tooth disease, recessive intermediate D
609 Cortical dysplasia, complex, with other brain malformations 05200 Amyloidosis, familial visceral 070 Charcot-Marie-Tooth disease, X-linked recessive, 5 625 Mental retardation type 8 60682 Charcot-Marie-Tooth disease, dominant intermediate B 6078 Retinitis pigmentosa 9 5 276900 Usher syndrome, type B 80200 Retinoblastoma 6009 Microphthalmia, isolated 2 6755 Leber congenital amaurosis 0 2 00857 Amyotrophic lateral sclerosis 5, with or without frontotemporal dementia 27690 Usher syndrome, type 2A 2 22200 Wolfram syndrome 6000 Brody myopathy 600669 Epilepsy, idiopathic generalized 6052 Leukodystrophy, hypomyelinating, 5 62069 Amyotrophic Lateral Sclerosis 0, With Or Without Frontotemporal Dementia 6587 Epileptic encephalopathy, early infantile, 2 65009 Mental retardation, autosomal dominant 7 660 Cranioectodermal dysplasia 2 60978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 6099 Cranioectodermal dysplasia 65 Amyotrophic lateral sclerosis 2 6855 Episodic ataxia, type 5 6658 Mental retardation, autosomal dominant 62656 Episodic ataxia, type 6 6662 Mental retardation, autosomal dominant 6 220 Creatine phosphokinase, elevated serum 6970 Joubert syndrome 20 600072 Insomnia, fatal familial 687 Epilepsy, idiopathic generalized, suscpetibility to, 2 66299 Lipoyltransferase deficiency 66579 Mental retardation, autosomal dominant, 0 60768 Charcot-Marie-Tooth disease, type 2E 60689 Hereditary myopathy with early respiratory failure 6229 Joubert syndrome 8 6005 Epilepsy, nocturnal frontal lobe, 65007 Basal ganglia calcification, idiopathic, 605 Epilepsy, Nocturnal Frontal Lobe, 658 Basal ganglia calcification, idiopathic, 5 0. Ophthalmological disorders TOTAL 872 2000 Albinism, oculocutaneous, type IA 6 55000 Leber optic atrophy / Leber hereditary optic neuropathy 28200 Stargardt disease 5 65500 Optic atrophy 20200 Albinism, oculocutaneous, type II 6008 Warburg micro syndrome 29 20800 Alstrom syndrome 28 60092 Microphthalmia with coloboma 27 20000 Leber congenital amaurosis 277600 Weill-Marchesani Syndrome ; 258870 Gyrate atrophy of choroid and retina with or without ornithinemia 0 0250 Nance-Horan syndrome 9 608 Stickler syndrome, type II 9 25850 Progressive external ophthalmoplegia, autosomal recessive 9 60005 Retinitis pigmentosa 2 9 6272 Leber congenital amaurosis 9 6826 Leber congenital amaurosis 6 9 606 Cone-rod dystrophy 9 5700 Macular Dystrophy, Vittelliform 8 602772 Retinitis pigmentosa 25 8 679 Retinitis pigmentosa 20 7 65 Cataract 7, multiple types 7 60925 Senior-Loken syndrome 5 7 000 Blepharophimosis, epicanthus inversus, and ptosis 7 607 Gaze palsy, horizontal, with progressive scoliosis 6 6809 Retinitis pigmentosa 9 6 680 Retinitis pigmentosa 0 6 0007 Night blindness, congenital stationary (incomplete), 2A, X-linked 6 27080 Jalili syndrome 6 60 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 628 Retinitis pigmentosa 5 5 6829 Leber congenital amaurosis 7 5 0620 Aniridia 5 6029 Cataract 9, multiple types 5 6022 Leber congenital amaurosis 5 2600 Retinitis pigmentosa 2 5 00600 Aland Island eye disease 5 880 Stickler syndrome, type III 5 6009 Cataract 8, autosomal recessive 5 655 Microphthalmia, isolated, with coloboma 9 5 607 Hermansky-Pudlak syndrome 5 65 Microphthalmia, isolated 8 5 60572 Usher syndrome, type iic 8000 Retinitis pigmentosa 00029 Retinitis pigmentosa 6 200 Glaucoma A, primary open angle, congenital, juvenile, or adult onset 2 267750 Knobloch syndrome, type 6089 Cone-rod dystrophy 609508 Stickler sydrome, type I, nonsyndromic ocular 7 609 Leber congenital amaurosis 2
27700 Corneal endothelial dystrophy 2, autosomal recessive 266920 Mainzer-Saldino syndrome 28800 Marinesco-Sjogren syndrome 26200 Achromatopsia- 60792 Microphthalmia, syndromic 6 2000 Hermansky-Pudlak syndrome 6756 Retinitis pigmentosa 9 6862 Retinitis pigmentosa 8 60777 Cone-rod dystrophy 6 200 Wagner syndrome / Wagner vitreoretinopathy 6075 Corneal dystrophy, Avellino type 6072 Hermansky-Pudlak syndrome 2850 Manitoba oculotrichoanal syndrome 680 Retinitis pigmentosa 26900 Achromatopsia-2 80500 Axenfeld-Rieger syndrome, type 0066 Microphthalmia, syndromic 2 670 Brittle Cornea Syndrome 2 229200 Brittle cornea syndrome 6082 Hermansky-Pudlak syndrome 2 780 Exudative vitreoretinopathy 6059 Retinitis pigmentosa 5700 Fibrosis Of Extraocular Muscles, Congenital, 607 Hermansky-Pudlak syndrome 5 6587 Occult macular dystrophy 6767 Retinitis pigmentosa 5 60657 Oculocutaneous albinism, type IV 20290 Albinism, oculocutaneous, type III 60068 Fibrosis of extraocular muscles, congenital, A 60067 Usher syndrome, type D 6002 Retinitis pigmentosa 6225 Warburg micro syndrome 2 6856 Acromatopsia 6220 Cataract type 600059 Retinitis pigmentosa 652 Retinitis pigmentosa 66 2 6296 Wolfram-like syndrome, autosomal dominant 2 6086 Vitelliform macular dystrophy, adult-onset 2 0600 Norrie disease 2 658 Retinitis pigmentosa 56 2 5800 Macular degeneration, age-related, 2 2 600886 Hyperferritinemia With Or Without Cataract 2 609286 Progressive external ophthalmoplegia, autosomal dominant, 2 00500 Albinism, Ocular, Type I 2 6597 Cone-rod dystrophy 20 2 6075 Hermansky-Pudlak syndrome 6 2 606068 Retinitis pigmentosa 28 2 68 Retinitis pigmentosa 62 2 60792 Retinitis pigmentosa 0 2 6880 Retinitis punctata albescens 2 6086 Microphthalmia, isolated, with coloboma 8 2 60208 Usher syndrome, type F 2 26800 Enhanced S-cone syndrome 2 0500 Night blindness, congenital stationary (complete), A, X-linked 2 6027 Night blindness, congenital stationary (incomplete), 2B, autosomal recessive 2000 Leber congenital amaurosis 2 2 60202 Cataract, pulverulent or cerulean, with or without microcornea 2 60855 Leber congenital amaurosis 9 25520 Minicore myopathy with external ophthalmoplegia 626 Night blindness, congenital stationary (complete), C, autosomal recessive 6750 Retinitis pigmentosa 27 6200 Cataract, multiple types 6500 Optic atrophy with cataract 26600 Doyne honeycomb degeneration of retina 22500 Ectopia lentis, isolated, autosomal recessive 69 Retinitis pigmentosa-50 6950 Patterned dystrophy of retinal pigment epithelium (macular dystrophy) 7760 Adult-onset primary open angle glaucoma 60992 Retinitis pigmentosa 6 Stickler syndrome, type IV 60229 Peters anomaly 605 Choriodal dystrophy, central areolar 2 6 Retinitis pigmentosa 7 0900 Megalocornea, X-linked 26900 Corneal opacification and other ocular anomalies 6500 Cone-rod dystrophy 6 6887 Cataract 6 6062 Leber congenital amaurosis 2 669 Cataract 8, autosomal recessive 6076 Hermansky-Pudlak syndrome 7 62095 Retinitis pigmentosa 6077 Hermansky-Pudlak syndrome 8 206900 Microphthalmia, Syndromic 606 Iridogoniodysgenesis, type 6769 Retinitis pigmentosa 25900 Mitochondrial myopathy 7800 Ptosis, hereditary congenital, 60 Retinitis pigmentosa 8 6758 Retinitis pigmentosa 7 820 Keratitis-ichthyosis-deafness syndrome 6087 Corneal dystrophy, lattice type IIIA 9220 Vitreoretinochoroidopathy 6056 Retinal cone dystrophy B 2
608 Cone-rod dystrophy 609887 Glaucoma, open angle, G 225200 Ectopia lentis et pupillae 6008 Retinitis pigmentosa 606952 Albinism, oculocutaneous, type IB 6700 Cataract with adult i phenotype 009 Deafness, X-linked 6 2 60622 Deafness, autosomal dominant 7 2 62 Ciliary dyskinesia, primary, 9, with or without situs inversus 60782 Deafness, autosomal recessive 7 65067 Ciliary dyskinesia, primary, 20 605 Deafness, autosomal recessive 9 25750 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 6558 Deafness, autosomal dominant 5 60708 Deafness, autosomal recessive 0. Ear, nose and throat disorders TOTAL 285 6006 Deafness, autosomal recessive 2 60720 Deafness, autosomal recessive 6 22 220290 Deafness, autosomal recessive A 22 6007 Deafness, autosomal recessive 9 9 60097 Deafness, autosomal recessive 7 60982 Deafness, autosomal recessive 28 0 608565 Deafness, autosomal recessive 5 0 602092 Deafness, autosomal recessive 8A 9 69 Deafness, autosomal recessive 8A 9 60629 Deafness, autosomal recessive 2 9 2500 Fazio-Londe disease 9 60928 Wolfram syndrome 2 8 6079 Deafness, autosomal recessive 77 7 60072 Deafness, autosomal recessive 8/0 7 6095 Deafness, autosomal recessive 2 7 688 Ciliary dyskinesia, primary, 7, with or without situs inversus 7 6086 Ciliary dyskinesia, primary,, with or without situs inversus 6 60265 Deafness, autosomal recessive 67 6 6070 Deafness, autosomal recessive 0 6 60869 Deafness, autosomal recessive 5 5 60867 Ciliary dyskinesia, primary, 5 5 6679 Ciliary dyskinesia, primary, 7 5 609006 Deafness, autosomal recessive 6 660 Deafness, autosomal dominant 65 6899 Deafness, autosomal recessive 9 605 Deafness, autosomal recessive 29 62650 Ciliary dyskinesia, primary, 2 60676 Ciliary dyskinesia, primary, 2 607 Deafness, autosomal recessive 79 65 Deafness, autosomal recessive 6 0700 Mohr-Tranebjaerg syndrome 695 Ciliary dyskinesia, primary, 9 60852 Ciliary dyskinesia, primary, 6 60709 Deafness, autosomal recessive 22 05. Bone, skin and immune disorders TOTAL 580 226700 Epidermolysis bullosa, junctional, Herlitz type 62 66200 Osteogenesis imperfecta, type I 59 0000 Ehlers-Danlos syndrome, type I 5700 Marfan syndrome 0 6700 Ichthyosis vulgaris 9 627 Diarrhea 5, with tufting enteropathy, congenital 2 265800 Pycnodysostosis 2 256500 Netherton syndrome 0050 Ehlers-Danlos syndrome, type IV 28 0020 Ehlers-Danlos syndrome, type III 2 60079 Deafness, Autosomal Recessive, With Enlarged Vestibular Aqueduct 5 2200 Ichthyosis, congenital, autosomal recessive 2 2 0800 Ichthyosis, X-linked 2 667 Deafness, autosomal recessive 86 6808 Ciliary dyskinesia, primary, 5 6086 Deafness, autosomal recessive 2 60706 Deafness, congenital with inner ear agenesis, microtia, and microdontia 220500 Door syndrome 6807 Ciliary dyskinesia, primary, 6269 Ciliary dyskinesia, primary, 0500 Deafness, X-linked 2 600060 Deafness, autosomal recessive 2 2 600652 Deafness, autosomal dominant A 2 66 Deafness, autosomal dominant B 2 607 Deafness, autosomal dominant 2 60966 Deafness, autosomal recessive 2 2 0800 Incontinentia pigmenti, type II 22 0500 Ectodermal dysplasia, hypohidrotic, X-linked 20 25850 Microvillus inclusion disease 20 2050 Contractural arachnodactyly, congenital 9 259700 Osteopetrosis, autosomal recessive 9 2050 Geleophysic dysplasia 9 226600 Epidermolysis bullosa dystrophica, autosomal recessive 8 60968 Osteogenesis imperfecta, type XI 7 760 Epidermolysis bullosa simplex, Dowling-Meara type 7 6602 Trichohepatoenteric syndrome 2 5 2200 Ichthyosis, congenital, autosomal recessive 5 0600 Chronic granulomatous disease, X-linked 5 6055 Hemophagocytic lymphohistiocytosis, familial, 2 5 228600 Hyaline fibromatosis syndrome 5