Division of Human Genetics (Children's Hospital of Philadelphia)

General information

Division of Human Genetics
Children's Hospital of Philadelphia
Philadelphia
Pennsylvania
United States - 19104

Organization ID: 505472

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 325

    Gene

    GeneSubmissionsLast Updated
    AARS21Jun 26, 2015
    ABCA31Jun 26, 2015
    ABCA43Jan 23, 2017
    ABCB111Jan 23, 2017
    ACADSB1Jun 26, 2015
    ACADVL1Jan 23, 2017
    ACTB1Jun 26, 2015
    ACTG11Jan 23, 2017
    ADGRV11Jan 23, 2017
    AGL3Jan 23, 2017
    AKAP94Jan 23, 2017
    ALDOB1Jan 23, 2017
    ALMS11Jan 23, 2017
    ALPL1Jan 23, 2017
    ANK22Jan 23, 2017
    AP4S11Jan 23, 2017
    APC1Jan 23, 2017
    ARSA1Jan 23, 2017
    ASPA1Jan 23, 2017
    ASXL31Jan 23, 2017
    ATM3Jan 23, 2017
    ATP7B1Jan 23, 2017
    BBS102Jan 23, 2017
    BRCA11Jun 26, 2015
    BTD2Jan 23, 2017
    C11orf651Jan 23, 2017
    CACNA1D2Jan 23, 2017
    CACNB21Jan 23, 2017
    CAV31Jan 23, 2017
    CD363Jan 23, 2017
    CDH232Jan 23, 2017
    CENPJ1Jan 23, 2017
    CFTR3Jan 23, 2017
    CFTR-AS11Jan 23, 2017
    CHAT1Jan 23, 2017
    CHD41Jan 23, 2017
    CHRNA42Jan 23, 2017
    CLCN11Jan 23, 2017
    COCH1Jan 23, 2017
    COL11A21Jan 23, 2017
    COL3A11Jan 23, 2017
    COL6A21Jan 23, 2017
    COL6A31Jan 23, 2017
    COL7A11Jan 23, 2017
    COL9A21Jan 23, 2017
    CPS11Jan 23, 2017
    CYP17A12Jan 23, 2017
    CYP1B11Jan 23, 2017
    CYP24A11Jun 26, 2015
    DHCR73Jan 23, 2017
    DNAH52Jan 23, 2017
    DSC21Jan 23, 2017
    DSG21Jan 23, 2017
    DSP3Jan 23, 2017
    DYNC1H11Jan 23, 2017
    EDAR1Jan 23, 2017
    EFTUD21Jun 26, 2015
    ENAM1Jun 26, 2015
    ESPN1Jan 23, 2017
    EXOSC31Jan 23, 2017
    EYA11Jan 23, 2017
    FANCC1Jan 23, 2017
    FBLN51Jan 23, 2017
    FERMT31Jan 23, 2017
    FGF31Jan 23, 2017
    FLG2Jan 23, 2017
    FLG-AS11Jan 23, 2017
    FOXF13Jun 17, 2020
    G6PD4Jan 23, 2017
    GABRA11Jan 23, 2017
    GALT1Jan 23, 2017
    GATAD13Jan 23, 2017
    GBA1Jun 26, 2015
    GFI1B1Jan 23, 2017
    GJB26Jan 23, 2017
    GLB11Jan 23, 2017
    GLDC1Jan 23, 2017
    GNAS2Jan 23, 2017
    GNE2Jan 23, 2017
    GP1BA1Jan 23, 2017
    GP91Jan 23, 2017
    GPHN3Jan 23, 2017
    HBB1Jan 23, 2017
    HEXA1Jan 23, 2017
    HGF1Jan 23, 2017
    HNRNPU1Jun 26, 2015
    HSD17B101Jun 26, 2015
    HSD17B41Jan 23, 2017
    IDUA4Jan 23, 2017
    ITGA2B2Jan 23, 2017
    KANK11Jan 23, 2017
    KCNB12Jan 23, 2017
    KCNE11Jun 26, 2015
    KCNH21Jan 23, 2017
    KCNQ12Jan 23, 2017
    LDLR2Jan 23, 2017
    LINC010821Jun 17, 2020
    LIPA1Jun 26, 2015
    LOC1005060711Jan 23, 2017
    LOC1053715669Jan 23, 2017
    LOC1060990621Jan 23, 2017
    LOC1066279811Jun 26, 2015
    LOC1071335101Jan 23, 2017
    LOXHD17Jan 23, 2017
    MAN1B11Jun 26, 2015
    MARVELD21Jan 23, 2017
    MCCC21Jan 23, 2017
    MFSD2A1Jan 23, 2017
    MLH11Jan 23, 2017
    MMAA1Jun 26, 2015
    MMACHC2Jan 23, 2017
    MTFMT1Jan 23, 2017
    MUTYH2Jan 23, 2017
    MYBPC31Jan 23, 2017
    MYH111Jun 26, 2015
    MYH142Jan 23, 2017
    MYH61Jan 23, 2017
    MYH72Jan 23, 2017
    MYH91Jan 23, 2017
    MYO15A11Jan 23, 2017
    MYO3A1Jan 23, 2017
    MYO61Jan 23, 2017
    MYO7A1Jan 23, 2017
    MYPN2Jan 23, 2017
    NBEAL21Jan 23, 2017
    NDE11Jun 26, 2015
    NDUFAF51Jan 23, 2017
    NDUFS11Jan 23, 2017
    NEXN2Jan 23, 2017
    NGLY11Jan 23, 2017
    NPC12Jan 23, 2017
    NPHS11Jan 23, 2017
    NR2E31Jun 26, 2015
    NR2F11Jan 23, 2017
    NSUN61Jan 23, 2017
    OBSL11Jul 21, 2015
    OCA21Jan 23, 2017
    OTOA1Jan 23, 2017
    OTOF3Jan 23, 2017
    OTOG8Jan 23, 2017
    PAH5Jan 23, 2017
    PCDH153Jan 23, 2017
    PEX14Jan 23, 2017
    PEX71Jan 23, 2017
    PIGT1Jan 23, 2017
    PKHD11Jan 23, 2017
    PLEC1Jan 23, 2017
    PLXNA31Jan 23, 2017
    PMM21Jan 23, 2017
    PNKP1Jun 26, 2015
    POLG3Jan 23, 2017
    POLR3A1Jun 26, 2015
    POU4F31Jan 23, 2017
    PTCHD11Jan 23, 2017
    PYGM2Jan 23, 2017
    RAB27A1Jan 23, 2017
    RAD51C1Jan 23, 2017
    RANBP22Jan 23, 2017
    RAPSN1Jan 23, 2017
    RASGRP22Jan 23, 2017
    RBM202Jan 23, 2017
    RDH122Jan 23, 2017
    RHO1Jan 23, 2017
    RNASEH2C3Jan 23, 2017
    RNF171Jan 23, 2017
    RUNX12Jan 23, 2017
    RYR11Jun 26, 2015
    RYR26Jan 23, 2017
    SCN5A4Jan 23, 2017
    SELENON2Jun 26, 2015
    SERPINA12Jan 23, 2017
    SGCD1Jun 26, 2015
    SHANK32Jun 26, 2015
    SI2Jan 23, 2017
    SIX11Jan 23, 2017
    SLC12A32Jan 23, 2017
    SLC17A52Jun 26, 2015
    SLC25A131Jan 23, 2017
    SLC26A13Jun 26, 2015
    SLC26A21Jan 23, 2017
    SLC26A42Jan 23, 2017
    SLC2A101Jun 26, 2015
    SMPX1Jan 23, 2017
    SNTA11Jun 26, 2015
    SPATA221Jan 23, 2017
    SPG111Jun 26, 2015
    SQSTM11Jan 23, 2017
    STRC3Jan 23, 2017
    STX111Jun 26, 2015
    STXBP21Jan 23, 2017
    TAF11Jan 23, 2017
    TBCEL-TECTA2Jan 23, 2017
    TECTA2Jan 23, 2017
    TG1Jun 26, 2015
    TINF21Jan 23, 2017
    TMC12Jan 23, 2017
    TMPO1Jan 23, 2017
    TMPRSS31Jan 23, 2017
    TNFRSF13B2Jun 26, 2015
    TNNI31Jan 23, 2017
    TPRN2Jan 23, 2017
    TRPM42Jan 23, 2017
    TTN4Jan 23, 2017
    TTN-AS12Jan 23, 2017
    USH1C1Jun 26, 2015
    USH2A3Jan 23, 2017
    USH2A-AS11Jan 23, 2017
    VCL2Jan 23, 2017
    VWF2Jan 23, 2017
    WDR451Jan 23, 2017
    WFS11Jan 23, 2017
    WHRN4Jan 23, 2017
    WNT10A2Jan 23, 2017
    ZIC21Jun 26, 2015

    Condition

    NameSubmissionsLast Updated
    22q13.3 deletion syndrome2Jun 26, 2015
    3-methylcrotonyl CoA carboxylase 2 deficiency1Jan 23, 2017
    Achondrogenesis, type IB1Jan 23, 2017
    Age-related macular degeneration 31Jan 23, 2017
    Aicardi Goutieres syndrome 33Jan 23, 2017
    Alpha-1-antitrypsin deficiency2Jan 23, 2017
    Alstrom syndrome1Jan 23, 2017
    Amelogenesis imperfecta, type IC1Jun 26, 2015
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Jan 23, 2017
    Aortic aneurysm, familial thoracic 41Jun 26, 2015
    Arrhythmogenic right ventricular cardiomyopathy, type 101Jan 23, 2017
    Arrhythmogenic right ventricular cardiomyopathy, type 111Jan 23, 2017
    Arrhythmogenic right ventricular dysplasia 83Jan 23, 2017
    Arrhythmogenic right ventricular dysplasia, familial, 25Jan 23, 2017
    Arterial tortuosity syndrome1Jun 26, 2015
    Ataxia-telangiectasia syndrome3Jan 23, 2017
    Atelosteogenesis type II1Jan 23, 2017
    Atrial septal defect 31Jan 23, 2017
    Autism, susceptibility to, X-linked 41Jan 23, 2017
    Autistic disorder of childhood onset1Jan 23, 2017
    Autosomal dominant nonsyndromic deafness 171Jan 23, 2017
    Autosomal dominant nonsyndromic deafness 61Jan 23, 2017
    Autosomal recessive cutis laxa type IA1Jan 23, 2017
    Autosomal recessive polycystic kidney disease1Jan 23, 2017
    Bainbridge-Ropers syndrome1Jan 23, 2017
    Baraitser-Winter Syndrome 21Jan 23, 2017
    Baraitser-Winter syndrome 11Jun 26, 2015
    Bardet-Biedl syndrome 11Jun 26, 2015
    Bardet-Biedl syndrome 101Jan 23, 2017
    Benign recurrent intrahepatic cholestasis type 21Jan 23, 2017
    Bernard Soulier syndrome2Jan 23, 2017
    Bernard-Soulier syndrome, type A2, autosomal dominant1Jan 23, 2017
    Beta-thalassemia, dominant inclusion body type1Jan 23, 2017
    Bethlem myopathy 12Jan 23, 2017
    Bifunctional peroxisomal enzyme deficiency1Jan 23, 2017
    Biotinidase deficiency2Jan 23, 2017
    Bosch-Boonstra-Schaaf optic atrophy syndrome1Jan 23, 2017
    Branchiootic syndrome1Jan 23, 2017
    Branchiootic syndrome 31Jan 23, 2017
    Branchiootorenal Syndrome 11Jan 23, 2017
    Breast-ovarian cancer, familial 11Jun 26, 2015
    Brugada syndrome 41Jan 23, 2017
    Cardiac arrhythmia, ankyrin B-related2Jan 23, 2017
    Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis1Jan 23, 2017
    Catecholaminergic polymorphic ventricular tachycardia type 15Jan 23, 2017
    Cerebral palsy, spastic quadriplegic, 21Jan 23, 2017
    Charcot-Marie-Tooth disease, axonal, type 2O1Jan 23, 2017
    Childhood hypophosphatasia1Jan 23, 2017
    Ciliary dyskinesia, primary, 32Jan 23, 2017
    Citrullinemia type II1Jan 23, 2017
    Cobalamin C disease2Jan 23, 2017
    Combined oxidative phosphorylation deficiency 151Jan 23, 2017
    Combined oxidative phosphorylation deficiency 81Jun 26, 2015
    Common variable immunodeficiency 21Jun 26, 2015
    Cone-rod dystrophy 33Jan 23, 2017
    Congenital disorder of deglycosylation1Jan 23, 2017
    Congenital disorder of glycosylation, type Ia1Jan 23, 2017
    Congenital hyperammonemia, type I1Jan 23, 2017
    Congenital myopathy with fiber type disproportion1Jun 26, 2015
    Congenital myotonia, autosomal dominant form1Jan 23, 2017
    Congenital myotonia, autosomal recessive form1Jan 23, 2017
    Congenital stationary night blindness, autosomal dominant 11Jan 23, 2017
    Coronary heart disease 73Jan 23, 2017
    Cushing's syndrome2Jan 23, 2017
    Cutis laxa, autosomal dominant 21Jan 23, 2017
    Cystic fibrosis3Jan 23, 2017
    Deafness enamel hypoplasia nail defects1Jan 23, 2017
    Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1Jan 23, 2017
    Deafness, X-linked 41Jan 23, 2017
    Deafness, autosomal dominant 111Jan 23, 2017
    Deafness, autosomal dominant 122Jan 23, 2017
    Deafness, autosomal dominant 131Jan 23, 2017
    Deafness, autosomal dominant 151Jan 23, 2017
    Deafness, autosomal dominant 201Jan 23, 2017
    Deafness, autosomal dominant 221Jan 23, 2017
    Deafness, autosomal dominant 231Jan 23, 2017
    Deafness, autosomal dominant 362Jan 23, 2017
    Deafness, autosomal dominant 3a2Jan 23, 2017
    Deafness, autosomal dominant 42Jan 23, 2017
    Deafness, autosomal dominant 91Jan 23, 2017
    Deafness, autosomal recessive 122Jan 23, 2017
    Deafness, autosomal recessive 163Jan 23, 2017
    Deafness, autosomal recessive 181Jun 26, 2015
    Deafness, autosomal recessive 18b8Jan 23, 2017
    Deafness, autosomal recessive 1A6Jan 23, 2017
    Deafness, autosomal recessive 211Jan 23, 2017
    Deafness, autosomal recessive 221Jan 23, 2017
    Deafness, autosomal recessive 233Jan 23, 2017
    Deafness, autosomal recessive 311Jan 23, 2017
    Deafness, autosomal recessive 301Jan 23, 2017
    Deafness, autosomal recessive 313Jan 23, 2017
    Deafness, autosomal recessive 36, with or without vestibular involvement1Jan 23, 2017
    Deafness, autosomal recessive 391Jan 23, 2017
    Deafness, autosomal recessive 4, with enlarged vestibular aqueduct2Jan 23, 2017
    Deafness, autosomal recessive 491Jan 23, 2017
    Deafness, autosomal recessive 72Jan 23, 2017
    Deafness, autosomal recessive 777Jan 23, 2017
    Deafness, autosomal recessive 792Jan 23, 2017
    Deafness, autosomal recessive 81Jan 23, 2017
    Deafness, autosomal recessive 93Jan 23, 2017
    Deficiency of 2-methylbutyryl-CoA dehydrogenase1Jun 26, 2015
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Jan 23, 2017
    Deficiency of steroid 17-alpha-monooxygenase2Jan 23, 2017
    Diastrophic dysplasia1Jan 23, 2017
    Dilated cardiomyopathy 1BB1Jan 23, 2017
    Dilated cardiomyopathy 1CC2Jan 23, 2017
    Dilated cardiomyopathy 1DD2Jan 23, 2017
    Dilated cardiomyopathy 1EE1Jan 23, 2017
    Dilated cardiomyopathy 1FF1Jan 23, 2017
    Dilated cardiomyopathy 1G4Jan 23, 2017
    Dilated cardiomyopathy 1KK2Jan 23, 2017
    Dilated cardiomyopathy 1L1Jun 26, 2015
    Dilated cardiomyopathy 1S1Jan 23, 2017
    Dilated cardiomyopathy 1T1Jan 23, 2017
    Dilated cardiomyopathy 1W2Jan 23, 2017
    Dilated cardiomyopathy 2A1Jan 23, 2017
    Dilated cardiomyopathy with woolly hair and keratoderma1Jan 23, 2017
    Distal myopathy, Tateyama type1Jan 23, 2017
    Dyskeratosis congenita, autosomal dominant, 31Jan 23, 2017
    Dystonia 271Jan 23, 2017
    Early infantile epileptic encephalopathy 101Jun 26, 2015
    Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Jan 23, 2017
    Ehlers-Danlos syndrome, type 41Jan 23, 2017
    Eichsfeld type congenital muscular dystrophy1Jun 26, 2015
    Elevated serum creatine phosphokinase1Jan 23, 2017
    Encephalopathy, acute, infection-induced, 3, suceptibility to1Jan 23, 2017
    Epidermolysis bullosa simplex with muscular dystrophy1Jan 23, 2017
    Epidermolysis bullosa simplex with nail dystrophy1Jan 23, 2017
    Epidermolysis bullosa simplex with pyloric atresia1Jan 23, 2017
    Epidermolysis bullosa simplex, Ogna type1Jan 23, 2017
    Epilepsy, juvenile myoclonic 51Jan 23, 2017
    Epilepsy, nocturnal frontal lobe, type 12Jan 23, 2017
    Epileptic encephalopathy, early infantile, 191Jan 23, 2017
    Epileptic encephalopathy, early infantile, 262Jan 23, 2017
    Epiphyseal dysplasia, multiple, 21Jan 23, 2017
    Familial adenomatous polyposis 11Jan 23, 2017
    Familial hemophagocytic lymphohistiocytosis 41Jun 26, 2015
    Familial hypercholesterolemia 12Jan 23, 2017
    Familial hypertrophic cardiomyopathy 13Jan 23, 2017
    Familial hypertrophic cardiomyopathy 141Jan 23, 2017
    Familial hypertrophic cardiomyopathy 152Jan 23, 2017
    Familial hypertrophic cardiomyopathy 202Jan 23, 2017
    Familial hypertrophic cardiomyopathy 41Jan 23, 2017
    Familial hypertrophic cardiomyopathy 71Jan 23, 2017
    Familial hypertrophic cardiomyopathy 94Jan 23, 2017
    Familial hypokalemia-hypomagnesemia2Jan 23, 2017
    Familial infantile myasthenia1Jan 23, 2017
    Familial platelet disorder with associated myeloid malignancy2Jan 23, 2017
    Familial restrictive cardiomyopathy 11Jan 23, 2017
    Fanconi anemia, complementation group C1Jan 23, 2017
    Fanconi anemia, complementation group O1Jan 23, 2017
    Fetal hemoglobin quantitative trait locus 11Jan 23, 2017
    Finnish congenital nephrotic syndrome1Jan 23, 2017
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 31Jan 23, 2017
    GM1 gangliosidosis type 21Jan 23, 2017
    GM1 gangliosidosis type 31Jan 23, 2017
    GNE myopathy2Jan 23, 2017
    Gaucher's disease, type 11Jun 26, 2015
    Glanzmann thrombasthenia2Jan 23, 2017
    Glaucoma 3, primary congenital, A1Jan 23, 2017
    Glycogen storage disease type III3Jan 23, 2017
    Glycogen storage disease, type V2Jan 23, 2017
    Gray platelet syndrome1Jan 23, 2017
    Griscelli syndrome type 21Jan 23, 2017
    HSD10 disease1Jun 26, 2015
    Hb SS disease1Jan 23, 2017
    Heinz body anemia1Jan 23, 2017
    Hemophagocytic lymphohistiocytosis, familial, 51Jan 23, 2017
    Hereditary fructosuria1Jan 23, 2017
    Holoprosencephaly 51Jun 26, 2015
    Hurler syndrome2Jan 23, 2017
    Hypercalcemia, infantile, 11Jun 26, 2015
    Hypomyelinating leukodystrophy 71Jun 26, 2015
    Hystrix-like ichthyosis with deafness2Jan 23, 2017
    Ichthyosis vulgaris2Jan 23, 2017
    Immunoglobulin A deficiency 21Jun 26, 2015
    Infantile GM1 gangliosidosis1Jan 23, 2017
    Intellectual disability and seizures1Jun 26, 2015
    Intervertebral disc disorder1Jan 23, 2017
    Iodotyrosyl coupling defect1Jun 26, 2015
    Irido-corneo-trabecular dysgenesis1Jan 23, 2017
    Keratitis-ichthyosis-deafness syndrome, autosomal dominant2Jan 23, 2017
    Keratosis palmoplantaris striata II1Jan 23, 2017
    Knuckle pads, deafness AND leukonychia syndrome2Jan 23, 2017
    Leber congenital amaurosis 132Jan 23, 2017
    Left ventricular noncompaction 101Jan 23, 2017
    Lethal acantholytic epidermolysis bullosa1Jan 23, 2017
    Leukocyte adhesion deficiency, type III1Jan 23, 2017
    Limb-girdle muscular dystrophy, type 2J4Jan 23, 2017
    Limb-girdle muscular dystrophy, type 2Q1Jan 23, 2017
    Long QT syndrome 12Jan 23, 2017
    Long QT syndrome 114Jan 23, 2017
    Long QT syndrome 121Jun 26, 2015
    Long QT syndrome 21Jan 23, 2017
    Long QT syndrome 34Jan 23, 2017
    Long QT syndrome 51Jun 26, 2015
    Long QT syndrome 91Jan 23, 2017
    Lynch syndrome II1Jan 23, 2017
    Lysosomal acid lipase deficiency1Jun 26, 2015
    MYH-associated polyposis2Jan 23, 2017
    MYH7-related late-onset scapuloperoneal muscular dystrophy1Jan 23, 2017
    Malignant hyperthermia, susceptibility to, 11Jun 26, 2015
    Mandibulofacial dysostosis-microcephaly syndrome1Jun 26, 2015
    McCune-Albright syndrome2Jan 23, 2017
    Mental retardation, autosomal dominant 131Jan 23, 2017
    Mental retardation, autosomal recessive 151Jun 26, 2015
    Metachromatic leukodystrophy1Jan 23, 2017
    Microtia1Jan 23, 2017
    Mitochondrial complex I deficiency2Jan 23, 2017
    Molybdenum cofactor deficiency, complementation group C1Jan 23, 2017
    Mucopolysaccharidosis, MPS-I-H/S2Jan 23, 2017
    Mucopolysaccharidosis, MPS-I-S2Jan 23, 2017
    Mucopolysaccharidosis, MPS-IV-B1Jan 23, 2017
    Muir-Torré syndrome1Jan 23, 2017
    Multiple congenital anomalies-hypotonia-seizures syndrome 31Jan 23, 2017
    Multiple epiphyseal dysplasia type 41Jan 23, 2017
    Mutilating keratoderma2Jan 23, 2017
    Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1Jan 23, 2017
    Myopathy, distal, 11Jan 23, 2017
    Myopathy, early-onset, with fatal cardiomyopathy4Jan 23, 2017
    Myopathy, myofibrillar, 9, with early respiratory failure4Jan 23, 2017
    Myopathy, myosin storage, autosomal recessive1Jan 23, 2017
    Myosclerosis, autosomal recessive1Jan 23, 2017
    Myosin storage myopathy1Jan 23, 2017
    Neonatal intrahepatic cholestasis caused by citrin deficiency1Jan 23, 2017
    Neoplasm of stomach2Jan 23, 2017
    Neurodegeneration with brain iron accumulation 51Jan 23, 2017
    Niemann-Pick disease type C12Jan 23, 2017
    Non-ketotic hyperglycinemia1Jan 23, 2017
    Nonarteritic anterior ischemic optic neuropathy, susceptibility to1Jan 23, 2017
    Odonto-onycho-dermal dysplasia2Jan 23, 2017
    Otofaciocervical syndrome 11Jan 23, 2017
    Paget disease of bone 31Jan 23, 2017
    Palmoplantar keratoderma-deafness syndrome2Jan 23, 2017
    Paroxysmal nocturnal hemoglobinuria 21Jan 23, 2017
    Pena-Shokeir syndrome type I1Jan 23, 2017
    Peripheral neuropathy, myopathy, hoarseness, and hearing loss1Jan 23, 2017
    Peroxisome biogenesis disorder 1A (Zellweger)3Jan 23, 2017
    Peroxisome biogenesis disorder 1B2Jan 23, 2017
    Peroxisome biogenesis disorder 9B1Jan 23, 2017
    Perrault syndrome 11Jan 23, 2017
    Persistent fetal circulation syndrome4Jun 17, 2020
    Phenylketonuria5Jan 23, 2017
    Platelet glycoprotein IV deficiency3Jan 23, 2017
    Platelet-type bleeding disorder 162Jan 23, 2017
    Platelet-type bleeding disorder 171Jan 23, 2017
    Platelet-type bleeding disorder 182Jan 23, 2017
    Pontocerebellar hypoplasia, type 1b1Jan 23, 2017
    Primary aldosteronism, seizures, and neurologic abnormalities1Jun 26, 2015
    Primary autosomal recessive microcephaly 151Jan 23, 2017
    Primary autosomal recessive microcephaly 61Jan 23, 2017
    Progressive familial heart block type IB2Jan 23, 2017
    Progressive familial intrahepatic cholestasis 21Jan 23, 2017
    Progressive osseous heteroplasia2Jan 23, 2017
    Progressive sclerosing poliodystrophy3Jan 23, 2017
    Pseudo von Willebrand disease1Jan 23, 2017
    Pseudohypoparathyroidism2Jan 23, 2017
    Pseudohypoparathyroidism type 1B2Jan 23, 2017
    Pseudohypoparathyroidism type 1C2Jan 23, 2017
    Pseudopseudohypoparathyroidism2Jan 23, 2017
    Pulmonary hypertension, neonatal, susceptibility to1Jan 23, 2017
    Retinitis pigmentosa 371Jun 26, 2015
    Revesz syndrome1Jan 23, 2017
    Rhizomelic chondrodysplasia punctata type 11Jan 23, 2017
    Rippling muscle disease 21Jan 23, 2017
    Salla disease1Jun 26, 2015
    Schopf-Schulz-Passarge syndrome2Jan 23, 2017
    Seckel syndrome 41Jan 23, 2017
    Short QT syndrome 11Jan 23, 2017
    Sialic acid storage disease, severe infantile type1Jun 26, 2015
    Sialuria1Jan 23, 2017
    Sick sinus syndrome 3, susceptibility to1Jan 23, 2017
    Sifrim-Hitz-Weiss syndrome1Jan 23, 2017
    Sinoatrial node dysfunction and deafness1Jan 23, 2017
    Skin fragility-woolly hair-palmoplantar keratoderma syndrome1Jan 23, 2017
    Skin/hair/eye pigmentation, variation in, 11Jan 23, 2017
    Smith-Lemli-Opitz syndrome3Jan 23, 2017
    Somatotroph adenoma2Jan 23, 2017
    Spastic paraplegia 11, autosomal recessive1Jun 26, 2015
    Spastic paraplegia 52, autosomal recessive1Jan 23, 2017
    Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Jan 23, 2017
    Spongy degeneration of central nervous system1Jan 23, 2017
    Stickler syndrome, type 51Jan 23, 2017
    Sucrase-isomaltase deficiency2Jan 23, 2017
    Surfactant metabolism dysfunction, pulmonary, 31Jun 26, 2015
    Susceptibility to malaria6Jan 23, 2017
    Tay-Sachs disease1Jan 23, 2017
    Three M syndrome 21Jul 21, 2015
    Tibial muscular dystrophy4Jan 23, 2017
    Tobacco addiction, susceptibility to2Jan 23, 2017
    Tooth agenesis, selective, 42Jan 23, 2017
    Transient bullous dermolysis of the newborn1Jan 23, 2017
    Turcot syndrome1Jan 23, 2017
    Tyrosinase-positive oculocutaneous albinism1Jan 23, 2017
    Ullrich congenital muscular dystrophy 12Jan 23, 2017
    Usher syndrome type 1D3Jan 23, 2017
    Usher syndrome type 1F3Jan 23, 2017
    Usher syndrome, type 2A3Jan 23, 2017
    Usher syndrome, type 2C1Jan 23, 2017
    Usher syndrome, type 2D3Jan 23, 2017
    Very long chain acyl-CoA dehydrogenase deficiency1Jan 23, 2017
    Vitamin B12-responsive methylmalonic acidemia type cblA1Jun 26, 2015
    Von Willebrand disease, recessive form2Jan 23, 2017
    Wilson disease1Jan 23, 2017
    X-linked dystonia-parkinsonism1Jan 23, 2017
    beta Thalassemia1Jan 23, 2017
    von Willebrand disease type 12Jan 23, 2017
    von Willebrand disease type 22Jan 23, 2017
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