Our partners worldwide. CENTOGENE Report: Diagnosed cases of rare diseases at CENTOGENE. January 2012 to June 2016.

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1 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 Rostock, Germany Samples > < 50 Customer Service Phone: +9 (0) Fax: +9 (0) dmqc@centogene.com CLIA #99D20975 V6_August206

2 Confirmed by disease category 0. Metabolic disorders TOTAL Fabry Gaucher Mucopolysaccharidosis II (Hunter syndrome) Glycogen storage disease II (Pompe) Niemann-Pick disease, type C Mucopolysaccharidosis IVA Mucopolysaccharidosis Ih/s Cystic fibrosis Metachromatic leukodystrophy Mucopolysaccharidosis type VI (Maroteaux-Lamy) Adrenal hyperplasia, congenital, due to 2-hydroxylase deficiency Krabbe disease Propionicacidemia Wilson disease Niemann-Pick disease, type A Mucopolysaccharidosis type IIIA (Sanfilippo A) Biotinidase deficiency Maple syrup urine disease, type Ia GM-gangliosidosis, type I Sandhoff disease, infantile, juvenile, and adult forms Hyperoxaluria, primary, type Maple syrup urine disease, type Ib Very long Chain acyl-coa dehydrogenase deficiency Cystinosis nephropathic Mucopolysaccharidosis type IIIB (Sanfilippo B) Pyruvate kinase deficiency Argininosuccinic aciduria Glutaric acidemia Glycogen storage disease type V/McArdle disease Methylmalonic aciduria, mut(0) type Ceroid lipofuscinosis, neuronal, Glutaricaciduria, type I Dihydrolipoamide dehydrogenase deficiency / MSUD III Tay-Sachs disease Phenylketonuria Mucolipidosis II alpha/beta Citrullinemia 2050 Medium chain acyl-coa dehydrogenase deficiency Fanconi anemia, complementation group A Glycogen storage disease III Ceroid lipofuscinosis, neuronal, Maple syrup urine disease, type II Familial Mediterranean fever, AR Methylmalonic aciduria and homocystinuria, cblc type Glycogen storage disease Ia Ornithine transcarbamylase deficiency Isovaleric acidemia Hemochromatosis Farber lipogranulomatosis Surfactant metabolsim dysfunction, pulmonary, Carnitine deficiency, systemic primary Tyrosinemia, type I Galactosemia L-2-hydroxyglutaric aciduria Trifunctional protein deficiency Hypercholesterolemia, familial Multiple sulfatase deficiency Glycogen storage disease Ib Mucopolysaccharidosis VII Apparent mineralocorticoid excess Cholestasis, progressive familial intrahepatic, Cholestasis, progressive familial intrahepatic, Carbamoylphosphate synthetase I deficiency HMG-CoA lyase deficiency Methylcrotonyl-CoA carboxylase 2 deficiency Sulfite oxidase deficiency Hyperphenylalaninemia, BH-deficient, C Ceroid lipofuscinosis, neuronal, Anemia, congenital dyserythropoietic, type I Hypoaldosteronism, congenital, due to CMO I deficiency Combined oxidative phosphorylation deficiency Pyruvate carboxylase deficiency Ceroid lipofuscinosis, neuronal, Niemann-pick disease, type C Mucopolysaccharidosis type IIIC (Sanfilippo C) CPT deficiency, hepatic, type IA Ceroid lipofuscinosis, neuronal, Congenital disorder of glycosylation, type Ia Fructose-,6-bidphosphatase deficiency Porphyria, acute intermittent Hyperinsulinemic hypoglycemia, familial Glycogen storage disease, type IXa/a Fanconi-Bickel syndrome 690 Alpha--antitrypsin deficiency Neuraminidase deficiency Fucosidosis Alpha-methylacetoacetic aciduria 6557 Asparagine synthetase deficiency Galactosialidosis Glycogen storage disease IV 6095 Ceroid lipofuscinosis, neuronal, Diabetes insipidus, nephrogenic 2

3 60600 Transaldolase deficiency 6276 Guanidinoacetate methyltransferase deficiency Mucopolysaccharidosis type IVB (Morquio) Congenital disorder of glycosylation, type IIl Maturity-onset diabetes of the young, type Fructose intolerance Wolman disease Methylmalonic aciduria, cblb type Niemann-Pick disease, type B Glycogen storage disease IXb Fanconi anemia, complementation group N long-chain -hydroxyl-coa dehydrogenase deficiency Combined malonic and methylmalonic aciduria Hyperlipoproteinemia, type Glycogen storage disease VI Succinyl CoA:-oxoacid CoA transferase deficiency Anemia, dyserythropoietic congenital, type II Hemochromatosis, type 2A Fanconi anemia, complementation group G Hypermethioninemia due to adenosine kinase deficiency Hypophosphatasia, childhood Donohue syndrome Maturity-onset diabetes of the young type MODY, type I Hypomagnesemia 5, renal, with ocular involvement Molybdenum cofactor deficiency Malonyl-CoA decarboxylase deficiency Lysinuric protein intolerance Combined oxidative phosphorylation deficiency Fish-eye disease Diabetes mellitus, insulin-resistant, with acanthosis nigricans beta-hydroxysteroid dehydrogenase, type II, deficiency Combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency Multiple mitochondrial dysfunctions syndrome Crigler-Najjar syndrome, type I Congenital disorder of glycosylation, type Ic Congenital disorder of glycosylation, type Id Congenital disorder of glycosylation, type Is Succinic semialdehyde dehydrogenase deficiency Rabson-Mendenhall syndrome Periodic fever, familial Martinez-Frias syndrome aminoadipic 2-oxoadipic aciduria Muscle glycogenosis Phosphoenolpyruvate carboxykinase-, cytosolic, deficiency Aminoacylase deficiency Fanconi anemia, complementation group F Combined oxidative phosphorylation deficiency Mannose-Binding Protein Deficiency Congenital disorder of glycosylation, type Ik Alpha-methylacyl-CoA racemase deficiency Hypomagnesemia, renal Methylcrotonyl-CoA carboxylase deficiency methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Fanconi anemia, complementation group D Fanconi anemia, complementation group C Mucopolysaccharidosis type IIID Cholestasis, Progressive Familial Intrahepatic, Methylmalonic aciduria, cbla type Fanconi anemia, complementation group D CPT deficiency, hepatic, type II Ceroid lipofuscinosis, neuronal, Methylmalonic aciduria due to transcobalamin receptor defect Orotic aciduria Hypermanganesemia with dystonia, polycythemia, and cirrhosis Hypophosphatasia, adult Transcobalamin II deficiency Homocystinuria-megaloblastic anemia, cblg complementation type Combined oxidative phosphorylation deficiency Bloom syndrome Congenital disorder of glycosylation, type IIj Mannosidosis, alpha-, types I and II Congenital disorder of glycosylation, type Porphyria, congenital erythropoietic Mucolipidosis IV Maturity-onset diabetes of the young type Lacticacidemia due to PDX deficiency Hyperphenylalaninemia, BH-deficient, A 2200 Mitochondrial complex IV deficiency 0052 Cerebral creatine deficiency syndrome Glucocorticoid deficiency Glycogen storage disease IXc Porphyria variegata 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 Sucrase-isomaltase deficiency, congenital Fanconi anemia, complementation group I Congenital disorder of glycosylation, type IIm 270 Pyruvate dehydrogenase E-alpha deficiency 627 Lipodystrophy, congenital generalized, type

4 6 Pyruvate dehydrogenase E-beta deficiency 66 GABA-transaminase deficiency 6027 Ceroid lipofuscinosis, neuronal, Trimethylaminuria Insulin-like growth factor I, resistance to Hypoaldosteronism, congenital, due to CMO II deficiency Chanarin-Dorfman syndrome methylglutaconic aciduria, type III Holocarboxylase synthetase deficiency Hemochromatosis, type 6552 Triosephosphate isomerase deficiency 6085 Phosphoglycerate dehydrogenase deficiency 6582 Combined oxidative phosphorylation deficiency Congenital disorder of glycosylation, type IIb Enterokinase deficiency Congenital disorder of glycosylation, type IId Adrenal Hyperplasia, Congenital, Due To Steroid -Beta- Hydroxylase Deficiency 608 Fanconi anemia, complementation group L Diabetes mellitus, permanent neonatal 6087 Fanconi anemia, complementation group M Dihydropyrimidinase deficiency Combined oxidative phosphorylation deficiency Congenital disorder of glycosylation, type Ib 6597 Combined oxidative phosphorylation deficiency Congenital disorder of glycosylation, type Ig Congenital disorder of glycosylation, type Iw 6058 Citrullinemia, type II, neonatal-onset Maturity-Onset Diabetes Of The Young, Type 2585 Diabetes mellitus, noninsulin-dependent / Diabetes mellitus, type II Maturity-onset diabetes of the young, type VIII PEPCK deficiency, mitochondrial 6698 Combined oxidative phosphorylation deficiency Hemochromatosis, type 6005 Glutamine deficiency, congenital Dihydropyrimidine dehydrogenase deficiency 6557 Mitochondrial complex III deficiency, nuclear type Erythrocyte amp deaminase deficiency 0700 Glycerol kinase deficiency 6752 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Monocarboxylate transporter deficiency Bile acid synthesis defect, congenital, Cystathioninuria 6080 Congenital disorder of glycosylation, type Ih 607 Citrullinemia, Type Ii, Adult-Onset 0050 Adenylosuccinase deficiency 692 Congenital disorder of glycosylation, type It Homocystinuria-Megaloblastic Anemia, Cble Complementation Type Polyglucosan body disease, adult form Fanconi anemia, complementation group J Cholestasis, intrahepatic, of pregnancy, Methylmalonic aciduria and homocystinuria, cbld type Diarrhea type Methylmalonic aciduria and homocystinuria, cblj type Combined D-2- and L-2-hydroxyglutaric aciduria CPT II deficiency, lethal neonatal Hypercholesterolemia, Autosomal Dominant, Mitochondrial complex III deficiency, nuclear type Surfactant metabolism dysfunction, pulmonary, Aspartylglucosaminuria Hartnup disorder Crigler-Najjar syndrome, type II Fumarase deficiency Hypocalciuric hypercalcemia, type I 2 6 Hemochromatosis, type 2B Hypochondroplasia Protoporphyria, erythropoietic, autosomal recessive NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY Pyruvate dehydrogenase E2 deficiency Glycogen storage disease XI 2 00 Hypercholesterolemia, Autosomal Dominant, Type B Maturity-onset diabetes of the young, type VII Maturity-onset diabetes of the young Congenital disorder of glycosylation, type Iq Hyperinsulinemic Hypoglycemia, Familial, OBESITY methylglutaconic aciduria, type I Diabetes mellitus, transient neonatal, Glycogen storage disease XIII Disordered Steroidogenesis Due To Cytochrome P50 Oxidoreductase Deficiency 6702 Combined oxidative phosphorylation deficiency Hyperinsulinemic hypoglycemia, familial, Mucopolysaccharidosis type IX 005 Fanconi anemia, complementation group B Alkaptonuria Refsum disease 2670 Glycogen storage disease of heart, lethal congenital 6000 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant Diabetes Insipidus, Nephrogenic, Autosomal 652 Tyrosine kinase 2 deficiency Congenital disorder of glycosylation, type Il 6069 maturity-onset diabetes of the young Mucopolysaccharidisis type IIIA (Sanfilippo A) 880 Hypercalcemia, infantile

5 270 N-acetylglutamate synthase deficiency Glycogen storage disease VII Merrf Syndrome / Myoclonic epilepsy associated with ragged-red fibers beta-hydroxysteroid dehydrogenase X deficiency Glycogen storage disease X Congenital disorder of glycosylation, type Ii ,-Dienoyl-Coa Reductase Congenital disorder of glycosylation, type Im Hyperlysinemia 02. Neurological disorders TOTAL Tuberous sclerosis Spinal muscular atrophy Chronic granulomatous disease, autosomal, due to deficiency of CYBA Ataxia-telangiectasia Spastic paraplegia, autosomal dominant Cystinosis, ocular nonnephropathic 688 Glycogen storage disease XII Tyrosinemia, type II 2070 Acyl-CoA dehydrogenase, short-chain, deficiency Hypophosphatemic rickets with hypercalciuria 2660 Glutathione synthetase deficiency 6962 Leptin deficiency Fanconi anemia, complementation group E 695 Fanconi anemia, complementation group P methylglutaconic aciduria, type Mucolipidosis III gamma 605 Methylmalonate semialdehyde dehydrogenase deficiency 697 Combined oxidative phosphorylation deficiency Abetalipoproteinemia 0200 Duchenne muscular dystrophy Adrenoleukodystrophy Leigh syndrome Nemaline myopathy 2, autosomal recessive Episodic ataxia, type Spastic paraplegia, autosomal recessive Ullrich congenital muscular dystrophy Muscular dystrophy, congenital merosin-deficient A Myotonia congenita, recessive Neurodegeneration with brain iron accumulation 2B Dravet syndrome Tuberous sclerosis Spinocerebellar ataxia, autosomal recessive Mitochondrial complex I deficiency 2020 Adrenal Hyperplasia, Congenital, Due To 7-Alpha-Hydroxylase Deficiency 6006 Parkinson disease, juvenile, type Central core disease Carnitine-acylcarnitine translocase deficiency Hyperinsulinemic hypoglycemia, familial, 2700 Diarrhea, secretory chloride, congenital Surfactant metabolism dysfunction, pulmonary, 665 Joubert syndrome 7 00 Huntington disease Autosomal recessive spastic ataxia of Charlevoix-Saguenay Epilepsy, pyridoxine-dependent Mitochondrial Complex V (ATP synthase) deficiency, mitochondrial type Cohen syndrome 2560 Muscular dystrophy, limb-girdle, type 2B 250 -hydroxyacyl-coa dehydrogenase deficiency 6508 Mitochondrial dna depletion syndrome 2500 Hypophosphatasia, infantile Muscular dystrophy, limb-girdle, type 2D Myotonic dystrophy Spastic paraplegia 7, autosomal recessive Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 280 Temtamy syndrome Aicardi-Goutieres syndrome Maturity-onset diabetes of the young, type 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 Glucocorticoid Deficiency Glucose/galactose malabsorption 2600 Pseudohermaphroditism, male, with gynecomastia 6078 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamineresponsive encephalopathy type 2) Muscular dystrophy, limb-girdle, type 2A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, Familial transthyretin amyloidosis Joubert syndrome Malignant hyperthermia susceptibility Leukoencephaly with vanishing white matter Epilepsy, generalized, with febrile seizures plus, type Hereditary diffuse leukoencephalopathy with spheroids Amyotrophic lateral sclerosis and/or frontotemporal dementia Infantile neuroaxonal dystrophy

6 657 Mitochondrial DNA depletion syndrome (encephalomyopathic type) Parkinson disease Joubert syndrome Friedreich ataxia Bethlem myopathy Fragile X mental retardation syndrome Canavan disease Zellweger syndrome autism Spastic paraplegia 5, autosomal recessive Migraine, familial hemiplegic, Becker muscular dystrophy Mental retardation, autosomal recessive Infection-induced acute encephalopathy Mitochondrial DNA depletion syndrome A (Alpers type) Salla disease Spinocerebellar ataxia, autosomal recessive Spastic paraplegia 56, autosomal recessive Spinocerebellar ataxia Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 6056 Spinocerebellar ataxia Charcot-Marie-Tooth disease, type 2A Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 6295 Parkinson disease Spastic paraplegia 5, autosomal recessive Peroxisome biogenesis disorder A (Zellweger) Epileptic encephalopathy, early infantile, Segawa syndrome, recessive Sjogren-Larsson syndrome Dystonia 6, torsion Charcot-Marie-Tooth disease, type A Alexander disease Episodic kinesigenic dyskinesia Dystonia, myoclonic Spinocerebellar ataxia, autosomal recessive Neuropathy, recurrent, with pressure palsies Joubert syndrome Charcot-Marie-Tooth disease, type C Cerebrotendinous xanthomatosis GLUT deficiency syndrome 5 60 Aicardi-Goutieres syndrome Mental retardation, autosomal dominant Hyperekplexia, hereditary, autosomal dominant or recessive Seizures, benign neonatal, Spinocerebellar ataxia Spastic paraplegia 0, autosomal dominant Metachromatic leukodystrophy due to SAP-b deficiency Charcot-Marie-Tooth neuropathy, X-linked dominant, Epileptic encephalopathy, early infantile, Myasthenic syndrome, congenital, Pontocerebellar hypoplasia type 2A 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, Joubert syndrome 6895 Charcot-Marie-Tooth disease, type F 600 Endplate acetylcholinesterase deficiency / Congenital myasthenic syndrome type C Insensitivity to pain, congenital, with anhidrosis 6566 Joubert syndrome Ethylmalonic encephalopathy Spinal muscular atrophy, lower extremity-predominant, 2, AD Spastic paraplegia 8, autosomal dominant Peroxisome biogenesis disorder A (Zellweger) Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Giant axonal neuropathy Epileptic encephalopathy, early infantile, Leigh syndrome, French-Canadian type Epileptic encephalopathy, early infantile, Muscular dystrophy, limb-girdle, type 2J Spastic paraplegia 5A, autosomal recessive Muscular dystrophy, limb-girdle, type 2E Spastic paraplegia, autosomal dominant Myotonic dystrophy Spinal muscular atrophy, distal, autosomal recessive Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 602 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Joubert syndrome Megalencephalic leukoencephalopathy with subcortical cysts Cerebellar ataxia, mental retardation, and dysequilibrium syndrome Spinocerebellar ataxia Myotonia congenita, dominant 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

7 6298 Neurodegeneration with brain iron accumulation Migraine, familial hemiplegic, Pelizaeus-Merzbacher disease Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, Parkinson disease 6, early onset Peroxisome biogenesis disorder 8A, (Zellweger) Schwartz-Jampel syndrome, type Aicardi-Goutieres syndrome Frontotemporal lobar degeneration with ubiquitin-positive inclusions Hydrocephalus, due to congenital stenosis of aqueduct of Sylvius Mental retardation, autosomal dominant Leukodystrophy, hypomyelinating, Facioscapulohumeral muscular dystrophy Spastic paraplegia, autosomal recessive Spinocerebellar ataxia Muscular dystrophy, congenital, due to ITGA7 deficiency Oculopharyngeal muscular dystrophy Spastic paraplegia 2, autosomal dominant Oral-facial-digital syndrome Mental retardation, autosomal recessive Multiple congenital anomalies-hypotonia-seizures syndrome Spinocerebellar ataxia Spastic paraplegia 20, autosomal recessive Muscular dystrophy with epidermolysis bullosa simplex Spastic paraplegia A, autosomal dominant Charcot-Marie-Tooth disease, type A Heterotopia, periventricular / X-linked periventricular heterotopia Charcot-Marie-Tooth disease, type H Kearns-Sayre Syndrome Charcot-Marie-Tooth disease, axonal, type 2N Dystonia Epilepsy, focal, with speech disorder and with or without mental retardation 6226 GLUT deficiency syndrome Progressive external ophthalmoplegia, autosomal dominant Spinocerebellar ataxia, autosomal recessive Mental retardation, autosomal recessive Opitz GBBB syndrome, X-linked Peroxisomal acyl-coa oxidase deficiency Epileptic encephalopathy, early infantile, Leukodystrophy, hypomyelinating, Epileptic encephalopathy, early infantile, Hyperkalemic periodic paralysis, type Epileptic encephalopathy, early infantile, Epileptic encephalopathy, early infantile, Hyperekplexia Lesch-Nyhan syndrome Leukodystrophy, hypomyelinating, 2 /Pelizaeus-Merzbacher-like disease, 6655 Charcot-Marie-Tooth disease, axonal, type 2S Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6057 Spastic paraplegia 0, autosomal recessive Walker-Warburg syndrome / Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A 600 Mitochondrial DNA depletion syndrome (MNGIE type) Muscular dystrophy, limb-girdle, type 2L Peroxisome biogenesis disorder A (Zellweger) Spinocerebellar ataxia Spastic paraplegia 2, autosomal dominant Spinocerebellar ataxia Pontocerebellar hypoplasia, type B Muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A 000 Myotubular myopathy, X-linked Peroxisome biogenesis disorder 7A (Zellweger) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy / Nasu-Hakola disease Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, Amyotrophic lateral sclerosis Mental retardation, X-linked (methylmalonic acidemia and homocysteinemia, cblx type ) 2200 Neurodegeneration with brain iron accumulation Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, / Muscular dystrophy limb-girdle, type 2K Pontocerebellar hypoplasia type Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance Mental retardation, X-linked Muscular dystrophy, limb-girdle, type 2C Myopathy, nemaline, 7 68 Porencephaly Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 6228 Charcot-Marie-Tooth disease, axonal, type Charcot-Marie-Tooth disease, type B Epileptic encephalopathy, early infantile, Charcot-Marie-Tooth disease, type B Choreoacanthocytosis Joubert syndrome Leukodystrophy, adult-onset, autosomal dominant 7 7 7

8 6569 Epileptic encephalopathy, childhood-onset Charcot-Marie-Tooth disease, type 2A Muscular dystrophy, congenital Mental retardation, X-linked Myopathy, myofibrillar, Mental retardation, autosomal recessive Peroxisome biogenesis disorder 9B Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked Parkinson disease Neuropathy, hereditary sensory and autonomic, type III Mental retardation, X-linked Myopathy, centronuclear Spinocerebellar ataxia Spastic paraplegia 28, autosomal recessive Urocanase deficiency Myopathy, myofibrillar, Myopathy, myofibrillar, Joubert syndrome Amyotrophic lateral sclerosis 2, juvenile Mental retardation and microcephaly with pontine and cerebellar hypoplasia Epilepsy, progressive myoclonic A (Unverricht and Lundborg) Epilepsy, Childhood Absence, Susceptibility To, Epilepsy, generalized, with febrile seizures plus, type Megalencephalic leukoencephalopathy with subcortical cysts 2A Charcot-Marie-Tooth disease, type B Alzheimer disease, type Agenesis of the corpus callosum with peripheral neuropathy Generalized Epilepsy With Febrile Seizures Plus, Type Dystonia Epileptic encephalopathy, early infantile, Epilepsy, generalized, with febrile seizures plus, type Myasthenic syndrome, congenital,, associated with acetylcholine receptor deficiency 6068 Neurodegeneration due to cerebral folate transport deficiency Spinocerebellar ataxia, autosomal recessive Paramyotonia congenita Spinocerebellar ataxia Myasthenic syndrome, congenital, associated with episodic apnea Muscular dystrophy, limb-girdle, type 2F Spastic paraplegia 9, autosomal recessive Nemaline myopathy 5, Amish type Myasthenic syndrome, slow-channel congenital Neurodegeneration with brain iron accululation Williams-Beuren syndrome Spinocerebellar ataxia Seizures, benign familial infantile, Spinocerebellar ataxia Mental retardation, autosomal recessive Spinocerebellar ataxia, autosomal recessive Myasthenic syndrome, acetazolamide-responsive Simpson-Golabi-Behmel syndrome, type Neurodegeneration with brain iron accumulation Nemaline Myopathy Peroxisome biogenesis disorder 2A (Zellweger) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Spinocerebellar ataxia Mental retardation, X-linked, syndromic, Claes-Jensen type Spinocerebellar ataxia Mental retardation, autosomal dominant Charcot-Marie-Tooth disease, type D Charcot-Marie-Tooth disease, type 2B Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 2660 Coach syndrome Dystonia-Parkinsonism, X-linked Alternating hemiplegia of childhood Amyotrophic lateral sclerosis, with or without frontotemporal dementia 6072 Charcot-Marie-Tooth disease, type 2D Epilepsy, Idiopathic Generalized, Susceptibility To, Insensitivity to pain, channelopathy-associated Cerebroretinal microangiopathy with calcifications and cysts Joubert syndrome Charcot-Marie-Tooth, Demyelinating, Type D Episodic ataxia/myokymia syndrome Aicardi-Goutieres syndrome Myopathy due to myoadenylate deaminase deficiency Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Spastic tetraplegia, thin corpus callosum and progressive microcephaly Slowed nerve conduction velocity, AD Waardenburg syndrome, type A Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, Parkinson disease Peroxisome biogenesis disorder B 6550 Parkinson disease 20, early-onset Silver-Russell syndrome 609 Mental retardation, autosomal recessive Spinocerebellar ataxia Rippling muscle disease

9 6062 Parkinson disease 7, autosomal recessive early-onset 652 Pontocerebellar hypoplasia, type 6 65 Parkinsonism-dystonia, infantile Pontocerebellar hypoplasia, type Mental retardation, X-linked pinocerebellar ataxia, X-linked 650 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, Myopathy due to CPT II deficiency 0950 Mental retardation, X-linked Spastic paraplegia 7, autosomal dominant 600 Tibial muscular dystrophy, tardive 6662 Mitochondrial DNA depletion syndrome B (MNGIE type) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 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 Mental retardation, autosomal recessive Paroxysmal nonkinesigenic dyskinesia Joubert syndrome 608 Mental retardation, autosomal recessive 5900 Dejerine-Sottas disease Emery-Dreifuss muscular dystrophy 5, autosomal dominant 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, 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) Myasthenic syndrome, fast-channel congenital Mental retardation, X-linked Spinocerebellar ataxia, autosomal recessive Mental retardation, X-linked Myopathy, congenital, with fiber-type disproportion Nemaline myopathy, autosomal dominant or recessive 602 Spastic ataxia 2, autosomal recessive 657 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, Pontocerebellar Hypoplasia, Type A 67 Spastic paraplegia 5, autosomal recessive 6076 Spinocerebellar ataxia Peroxisome biogenesis disorder 5A (Zellweger) Spinocerebellar ataxia Cerebellar ataxia, mental retardation, and dysequilibrium syndrome Peroxisome biogenesis disorder 6A (Zellweger) 760 Spinocerebellar ataxia 29, congenital nonprogressive 6607 Mental retardation, autosomal dominant Spastic paraplegia 6, autosomal recessive Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 6207 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) Hereditary motor and sensory neuropathy, type IIc 605 Cerebral palsy, spastic quadriplegic, Early infantile epileptic encephalopathy 677 Epileptic encephalopathy, early infantile, 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 Spastic paraplegia-2, autosomal recessive 6556 Muscular dystrophy, limb-girdle, type 2S 0065 Phosphoglycerate kinase deficiency 6050 Myopathy, centronuclear Spinal muscular atrophy with congenital bone fractures Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia 6705 Myopathy, early-onset, with fatal cardiomyopathy 6628 Mental retardation, autosomal recessive Dementia, frontotemporal 002 FG syndrome Mental retardation, autosomal dominant Fragile X tremor/ataxia syndrome 0580 Angelman syndrome 605 Hereditary sensory neuropathy type IID 6728 Spinocerebellar ataxia, autosomal recessive Spinocerebellar ataxia 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 Epilepsy, nocturnal frontal lobe, 9

10 66 Charcot-Marie-Tooth disease, recessive intermediate, B Mental Retardation, X-Linked, Syndromic, Raymond Type Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 66 Neuropathy, hereditary sensory, type IE Neuronopathy, Distal Hereditary Motor, Type Viib Cerebellar atrophy, visual impairment, and psychomotor retardation Prion disease with protracted course X-linked mental retardation Charcot-Marie-Tooth disease, type 2I Ataxia with isolated vitamin E deficiency Epileptic encephalopathy, early infantile, Leukodystrophy, hypomyelinating, 6688 Hereditary sensory and autonomic neuropathy type Craniosynostosis and dental anomalies 6586 Aicardi-Goutieres syndrome Dystonia Ataxia, posterior column, with retinitis pigmentosa 60 Mental retardation, autosomal recessive Hydrocephalus, nonsyndromic, autosomal recessive Kenny-Caffey syndrome, type Hydrocephalus, nonsyndromic, autosomal recessive Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 669 Epileptic encephalopathy, early infantile, Cortical dysplasia, complex, with other brain malformations Hypomyelination with brainstem and spinal cord involvement and leg spasticity 660 Leukodystrophy, hypomyelinating, Acrocallosal syndrome Liang distal myopathy 0095 Autism, Susceptibility To, X-Linked 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 Mental retardation, autosomal dominant Joubert syndrome Generalized epilepsy and paroxysmal dyskinesia 690 Epilepsy, hearing loss, and mental retardation syndrome 000 Emery-Dreifuss muscular dystrophy, X-linked 6500 Aicardi-Goutieres syndrome Mental retardation, X-linked Mental retardation, X-linked Spinocerebellar ataxia, infantile-onset Mental retardation, X-linked Visceral myopathy Spastic paraplegia 2, X-linked Spinocerebellar ataxia Spinal and bulbar muscular atrophy of Kennedy Mental retardation, X-linked Spastic paraplegia, autosomal dominant Mental Retardation, X-Linked, Syndromic, Christianson Type Muscular dystrophy, limb-girdle, type IC Nonaka myopathy Parkinson disease 5, autosomal recessive Rigid Spine Muscular Dystrophy Myopathy, centronuclear, 2 00 Mental Retardation, X-Linked Periventricular heterotopia with microcephaly Spinal muscular atrophy, distal, autosomal recessive, Mental Retardation, X-Linked, Syndromic, Wu Type Pitt-Hopkins like syndrome Spastic ataxia, autosomal dominant Mental retardation, X-linked syndromic, Turner type Spastic paraplegia 7, autosomal dominant Spinal muscular atrophy Pontocerebellar hypoplasia, type 2E 2 80 Scapuloperoneal syndrome, myopathic type spinocerebellar ataxia Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, Peripheral neuropathy, myopathy, hoarseness, and hearing loss Charcot-Marie-Tooth disease, dominant intermediate E Coenzyme Q0 deficiency, primary, Mental retardation, autosomal dominant Epilepsy, progressive myoclonic 2A (Lafora) Epilepsy, Childhood Absence, Susceptibility To, Gerstmann-Straussler disease Mental retardation and distinctive facial features with or without cardiac defects Epilepsy, progressive myoclonic 2B (Lafora) 2 60 Mental retardation, autosomal dominant Griscelli syndrome, type Kohlschutter-Tonz syndrome Epilepsy, progressive myoclonic, with or without renal failure Cortical dysplasia, complex, with other brain malformations Epilepsy, familial temporal lobe, Creutzfeldt-Jakob disease Epileptic encephalopathy, early infantile, Mental retardation, autosomal dominant Ataxia-oculomotor apraxia Mental retardation, autosomal dominant Charcot-Marie-Tooth disease, axonal, type 2F Coenzyme Q0 deficiency, primary,

11 6722 Epileptic encephalopathy, early infantile, Epileptic encephalopathy, early infantile, Emery-Dreifuss muscular dystrophy, autosomal dominant Dystonia, torsion, autosomal dominant Charcot-Marie-Tooth disease, axonal, type 2K Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 6200 Autism susceptibility Dystonia Hypokalemic periodic paralysis, type Amyotrophic lateral sclerosis Inclusion body myopathy, autosomal recessive Malignant hyperthermia susceptibility Charcot-Marie-Tooth disease, type J Mental retardation with language impairment and with or without autistic features Aicardi-Goutieres syndrome, dominant and recessive Mental retardation, autosomal dominant Charcot-Marie-Tooth disease, axonal, type 2Q Dystonia, dopa-responsive, due to sepiapterin reductase deficiency Chorea, Benign Hereditary Mental retardation, autosomal dominant Joubert syndrome 2 62 Joubert syndrome Mental retardation, autosomal recessive Mental retardation, X-linked Neuropathy, hereditary sensory and autonomic, type II 6067 Spastic paraplegia 52, autosomal recessive Neurodegeneration with brain iron accumulation 600 Spinocerebellar ataxia Spastic Paraplegia and Psychomotor Retardation with or without Seizures 200 Perrault syndrome Peroxisome biogenesis disorder 2B 6026 Spinocerebellar ataxia Spinocerebellar ataxia, autosomal recessive 950 Waardenburg syndrome, type 2A Parkinson disease 9, juvenile-onset 6508 Mirror movements Muscular dystrophy, limb-girdle, type B Nemaline myopathy, autosomal dominant Spastic paraplegia, autosomal dominant 609 Spastic paraplegia 6, autosomal recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, Mental retardation, autosomal dominant Muscular dystrophy, limb-girdle, type E Spinal muscular atrophy, lower extremity-predominant, AD Dementia, familial, nonspecific 6655 Mental Retardation, Autosomal Dominant Mental retardation, autosomal dominant Epilepsy, familial temporal lobe, Epilepsy, Childhood Absence, Susceptibility To, Amyotrophic lateral sclerosis, juvenile 850 Emery-Dreifuss muscular dystrophy Coenzyme Q0 deficiency, primary, 5 6 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 6 Mental retardation, autosomal dominant Charcot-Marie-Tooth disease, axonal, type 2U 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 Mental retardation, X-linked Myasthenic Syndrome, Congenital, With Tubular Aggregates 0020 Mental retardation, X-linked Muscular dystrophy, limb-girdle, type A 220 Seizures, Benign Familial Neonatal, 2 65 Spinocerebellar ataxia Mitochondrial complex III deficiency, nuclear type Spastic paraplegia Neuromyotonia and axonal neuropathy, autosomal recessive Pontocerebellar hypoplasia, type Mitochondrial DNA depletion syndrome 8A 250 Brown-Vialetto-Van Laere syndrome 0520 Amyloidosis, finnish type 020 Erythermalgia, primary Epilepsy, myoclonic juvenile 669 Hyperekplexia 2, autosomal recessive 688 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 656 Mental retardation, autosomal dominant Dyskinesia, familial, with facial myokymia 66 Joubert syndrome Heterotopia, periventricular, ED variant 2570 Dentatorubro-pallidoluysian atrophy Charcot-Marie-Tooth disease, axonal, type 2L 685 Joubert syndrome Encephalopathy, acute, infection-induced, Mental retardation, autosomal dominant, Huntington disease-like Charcot-Marie-Tooth disease, recessive intermediate D

12 609 Cortical dysplasia, complex, with other brain malformations Amyloidosis, familial visceral 070 Charcot-Marie-Tooth disease, X-linked recessive, Mental retardation type Charcot-Marie-Tooth disease, dominant intermediate B 6078 Retinitis pigmentosa Usher syndrome, type B Retinoblastoma 6009 Microphthalmia, isolated Leber congenital amaurosis Amyotrophic lateral sclerosis 5, with or without frontotemporal dementia Usher syndrome, type 2A Wolfram syndrome 6000 Brody myopathy Epilepsy, idiopathic generalized 6052 Leukodystrophy, hypomyelinating, Amyotrophic Lateral Sclerosis 0, With Or Without Frontotemporal Dementia 6587 Epileptic encephalopathy, early infantile, Mental retardation, autosomal dominant Cranioectodermal dysplasia Choreoathetosis, hypothyroidism, and neonatal respiratory distress 6099 Cranioectodermal dysplasia 65 Amyotrophic lateral sclerosis Episodic ataxia, type Mental retardation, autosomal dominant Episodic ataxia, type Mental retardation, autosomal dominant Creatine phosphokinase, elevated serum 6970 Joubert syndrome Insomnia, fatal familial 687 Epilepsy, idiopathic generalized, suscpetibility to, Lipoyltransferase deficiency Mental retardation, autosomal dominant, Charcot-Marie-Tooth disease, type 2E Hereditary myopathy with early respiratory failure 6229 Joubert syndrome Epilepsy, nocturnal frontal lobe, Basal ganglia calcification, idiopathic, 605 Epilepsy, Nocturnal Frontal Lobe, 658 Basal ganglia calcification, idiopathic, 5 0. Ophthalmological disorders TOTAL Albinism, oculocutaneous, type IA Leber optic atrophy / Leber hereditary optic neuropathy Stargardt disease Optic atrophy Albinism, oculocutaneous, type II 6008 Warburg micro syndrome Alstrom syndrome Microphthalmia with coloboma Leber congenital amaurosis Weill-Marchesani Syndrome ; Gyrate atrophy of choroid and retina with or without ornithinemia Nance-Horan syndrome Stickler syndrome, type II Progressive external ophthalmoplegia, autosomal recessive Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis Cone-rod dystrophy Macular Dystrophy, Vittelliform Retinitis pigmentosa Retinitis pigmentosa Cataract 7, multiple types Senior-Loken syndrome Blepharophimosis, epicanthus inversus, and ptosis Gaze palsy, horizontal, with progressive scoliosis Retinitis pigmentosa Retinitis pigmentosa Night blindness, congenital stationary (incomplete), 2A, X-linked Jalili syndrome 6 60 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 628 Retinitis pigmentosa Leber congenital amaurosis Aniridia Cataract 9, multiple types Leber congenital amaurosis Retinitis pigmentosa Aland Island eye disease Stickler syndrome, type III Cataract 8, autosomal recessive Microphthalmia, isolated, with coloboma Hermansky-Pudlak syndrome 5 65 Microphthalmia, isolated Usher syndrome, type iic 8000 Retinitis pigmentosa Retinitis pigmentosa Glaucoma A, primary open angle, congenital, juvenile, or adult onset Knobloch syndrome, type 6089 Cone-rod dystrophy Stickler sydrome, type I, nonsyndromic ocular Leber congenital amaurosis 2

13 27700 Corneal endothelial dystrophy 2, autosomal recessive Mainzer-Saldino syndrome Marinesco-Sjogren syndrome Achromatopsia Microphthalmia, syndromic Hermansky-Pudlak syndrome 6756 Retinitis pigmentosa Retinitis pigmentosa Cone-rod dystrophy Wagner syndrome / Wagner vitreoretinopathy 6075 Corneal dystrophy, Avellino type 6072 Hermansky-Pudlak syndrome 2850 Manitoba oculotrichoanal syndrome 680 Retinitis pigmentosa Achromatopsia Axenfeld-Rieger syndrome, type 0066 Microphthalmia, syndromic Brittle Cornea Syndrome Brittle cornea syndrome 6082 Hermansky-Pudlak syndrome Exudative vitreoretinopathy 6059 Retinitis pigmentosa 5700 Fibrosis Of Extraocular Muscles, Congenital, 607 Hermansky-Pudlak syndrome Occult macular dystrophy 6767 Retinitis pigmentosa Oculocutaneous albinism, type IV Albinism, oculocutaneous, type III Fibrosis of extraocular muscles, congenital, A Usher syndrome, type D 6002 Retinitis pigmentosa 6225 Warburg micro syndrome Acromatopsia 6220 Cataract type Retinitis pigmentosa 652 Retinitis pigmentosa Wolfram-like syndrome, autosomal dominant Vitelliform macular dystrophy, adult-onset Norrie disease Retinitis pigmentosa Macular degeneration, age-related, Hyperferritinemia With Or Without Cataract Progressive external ophthalmoplegia, autosomal dominant, Albinism, Ocular, Type I Cone-rod dystrophy Hermansky-Pudlak syndrome Retinitis pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinitis punctata albescens Microphthalmia, isolated, with coloboma Usher syndrome, type F Enhanced S-cone syndrome Night blindness, congenital stationary (complete), A, X-linked Night blindness, congenital stationary (incomplete), 2B, autosomal recessive 2000 Leber congenital amaurosis Cataract, pulverulent or cerulean, with or without microcornea Leber congenital amaurosis Minicore myopathy with external ophthalmoplegia 626 Night blindness, congenital stationary (complete), C, autosomal recessive 6750 Retinitis pigmentosa Cataract, multiple types 6500 Optic atrophy with cataract Doyne honeycomb degeneration of retina Ectopia lentis, isolated, autosomal recessive 69 Retinitis pigmentosa Patterned dystrophy of retinal pigment epithelium (macular dystrophy) 7760 Adult-onset primary open angle glaucoma Retinitis pigmentosa 6 Stickler syndrome, type IV Peters anomaly 605 Choriodal dystrophy, central areolar 2 6 Retinitis pigmentosa Megalocornea, X-linked Corneal opacification and other ocular anomalies 6500 Cone-rod dystrophy Cataract Leber congenital amaurosis Cataract 8, autosomal recessive 6076 Hermansky-Pudlak syndrome Retinitis pigmentosa 6077 Hermansky-Pudlak syndrome Microphthalmia, Syndromic 606 Iridogoniodysgenesis, type 6769 Retinitis pigmentosa Mitochondrial myopathy 7800 Ptosis, hereditary congenital, 60 Retinitis pigmentosa Retinitis pigmentosa Keratitis-ichthyosis-deafness syndrome 6087 Corneal dystrophy, lattice type IIIA 9220 Vitreoretinochoroidopathy 6056 Retinal cone dystrophy B 2

14 608 Cone-rod dystrophy Glaucoma, open angle, G Ectopia lentis et pupillae 6008 Retinitis pigmentosa Albinism, oculocutaneous, type IB 6700 Cataract with adult i phenotype 009 Deafness, X-linked Deafness, autosomal dominant Ciliary dyskinesia, primary, 9, with or without situs inversus Deafness, autosomal recessive Ciliary dyskinesia, primary, Deafness, autosomal recessive Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 6558 Deafness, autosomal dominant Deafness, autosomal recessive 0. Ear, nose and throat disorders TOTAL Deafness, autosomal recessive Deafness, autosomal recessive Deafness, autosomal recessive A Deafness, autosomal recessive Deafness, autosomal recessive Deafness, autosomal recessive Deafness, autosomal recessive Deafness, autosomal recessive 8A 9 69 Deafness, autosomal recessive 8A Deafness, autosomal recessive Fazio-Londe disease Wolfram syndrome Deafness, autosomal recessive Deafness, autosomal recessive 8/ Deafness, autosomal recessive Ciliary dyskinesia, primary, 7, with or without situs inversus Ciliary dyskinesia, primary,, with or without situs inversus Deafness, autosomal recessive Deafness, autosomal recessive Deafness, autosomal recessive Ciliary dyskinesia, primary, Ciliary dyskinesia, primary, Deafness, autosomal recessive Deafness, autosomal dominant Deafness, autosomal recessive Deafness, autosomal recessive Ciliary dyskinesia, primary, Ciliary dyskinesia, primary, Deafness, autosomal recessive Deafness, autosomal recessive Mohr-Tranebjaerg syndrome 695 Ciliary dyskinesia, primary, Ciliary dyskinesia, primary, Deafness, autosomal recessive Bone, skin and immune disorders TOTAL Epidermolysis bullosa, junctional, Herlitz type Osteogenesis imperfecta, type I Ehlers-Danlos syndrome, type I 5700 Marfan syndrome Ichthyosis vulgaris Diarrhea 5, with tufting enteropathy, congenital Pycnodysostosis Netherton syndrome 0050 Ehlers-Danlos syndrome, type IV Ehlers-Danlos syndrome, type III Deafness, Autosomal Recessive, With Enlarged Vestibular Aqueduct Ichthyosis, congenital, autosomal recessive Ichthyosis, X-linked Deafness, autosomal recessive Ciliary dyskinesia, primary, Deafness, autosomal recessive Deafness, congenital with inner ear agenesis, microtia, and microdontia Door syndrome 6807 Ciliary dyskinesia, primary, 6269 Ciliary dyskinesia, primary, 0500 Deafness, X-linked Deafness, autosomal recessive Deafness, autosomal dominant A 2 66 Deafness, autosomal dominant B Deafness, autosomal dominant Deafness, autosomal recessive Incontinentia pigmenti, type II Ectodermal dysplasia, hypohidrotic, X-linked Microvillus inclusion disease Contractural arachnodactyly, congenital Osteopetrosis, autosomal recessive Geleophysic dysplasia Epidermolysis bullosa dystrophica, autosomal recessive Osteogenesis imperfecta, type XI Epidermolysis bullosa simplex, Dowling-Meara type Trichohepatoenteric syndrome Ichthyosis, congenital, autosomal recessive Chronic granulomatous disease, X-linked Hemophagocytic lymphohistiocytosis, familial, Hyaline fibromatosis syndrome 5