Bioscientia Institut fuer Medizinische Diagnostik GmbH (Sonic Healthcare)

General information

Bioscientia Institut fuer Medizinische Diagnostik GmbH
Sonic Healthcare
Konrad-Adernauer-Strasse 17
Ingelheim
Rheinland-Pfalz
Germany - 55218
http://www.bioscientia.de/en/
Organization ID: 505827

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 731

    Gene

    GeneSubmissionsLast Updated
    ABCA411Mar 13, 2019
    ABCC81Oct 10, 2016
    ABHD121Oct 10, 2016
    ACADVL1Dec 20, 2017
    ACAN1Mar 13, 2019
    ACTN44Mar 13, 2019
    ADA21Dec 20, 2017
    ADAMTS132Apr 20, 2017
    ADGRV15Mar 13, 2019
    AGL3Dec 20, 2017
    ALAD1Dec 20, 2017
    ALDOB2Apr 20, 2017
    ALPL3Mar 13, 2019
    ANLN3Mar 13, 2019
    ANOS11Apr 20, 2017
    APC2Mar 13, 2019
    ARHGAP241Dec 20, 2017
    ASS11Sep 19, 2018
    ATP6V0A41Mar 13, 2019
    ATP6V1B11Mar 13, 2019
    AVP1Dec 7, 2016
    AVPR21Apr 20, 2017
    AXDND13Mar 13, 2019
    B3GALT61Dec 20, 2017
    BBS11Dec 20, 2017
    BBS41Jan 24, 2017
    BBS91Oct 10, 2016
    BCKDHA1Dec 7, 2016
    BCKDHB2Jan 24, 2017
    BEST16Sep 19, 2018
    BRCA19Mar 13, 2019
    BRCA23Mar 13, 2019
    BSCL21Dec 7, 2016
    BVES1Mar 13, 2019
    C12orf432Dec 20, 2017
    C33Sep 19, 2018
    C72Mar 13, 2019
    CA21Dec 20, 2017
    CABP41Mar 13, 2019
    CACNA1F1Dec 7, 2016
    CASR1Jan 24, 2017
    CBS1Dec 20, 2017
    CD2AP4Mar 13, 2019
    CD465Mar 13, 2019
    CDH232Sep 19, 2018
    CDK131Mar 13, 2019
    CDKN1C1Jan 24, 2017
    CEP2901Apr 20, 2017
    CERKL2Dec 20, 2017
    CFB3Dec 7, 2016
    CFH8Mar 13, 2019
    CFI5Mar 13, 2019
    CHD12Mar 13, 2019
    CHD72Dec 20, 2017
    CHD81Mar 13, 2019
    CHM3Mar 13, 2019
    CLCN51Jan 24, 2017
    CLCN71Apr 20, 2017
    CLCNKB1Dec 7, 2016
    CLDN141Sep 19, 2018
    CLDN161Apr 20, 2017
    CLRN11Sep 19, 2018
    CNGB11Dec 7, 2016
    CNNM41Mar 13, 2019
    COL17A11Dec 20, 2017
    COL1A17Mar 13, 2019
    COL1A21Sep 19, 2018
    COL2A13Mar 13, 2019
    COL4A340Mar 13, 2019
    COL4A457Mar 13, 2019
    COL4A557Mar 13, 2019
    COL5A21Apr 20, 2017
    COL7A11Dec 7, 2016
    COMP1Mar 13, 2019
    COQ21Dec 20, 2017
    COQ8B1Sep 19, 2018
    CRB11Oct 10, 2016
    CRB23Dec 20, 2017
    CREBBP2Dec 20, 2017
    CRX1Sep 19, 2018
    CTNNB11Mar 13, 2019
    CUBN16Mar 13, 2019
    CYP11B12Dec 20, 2017
    DGKE6Mar 13, 2019
    DIAPH11Sep 19, 2018
    DNAH51Dec 20, 2017
    DRAM21Dec 7, 2016
    DSP1Sep 19, 2018
    EDA1Dec 20, 2017
    EIF2AK31Dec 20, 2017
    ELP41Apr 20, 2017
    EPG51Dec 7, 2016
    ERF1Mar 13, 2019
    ETFDH1Dec 20, 2017
    EVC2Dec 20, 2017
    EYA11Dec 20, 2017
    EYS5Mar 13, 2019
    FAH1Mar 13, 2019
    FANCA1Mar 13, 2019
    FGFR21Dec 7, 2016
    FGFR33Sep 19, 2018
    FKBP101Apr 20, 2017
    FLNA1Dec 7, 2016
    FOXL21Jan 24, 2017
    FREM22Dec 20, 2017
    GAA3Dec 20, 2017
    GCDH1Jan 24, 2017
    GCK3Dec 20, 2017
    GDF51Oct 10, 2016
    GDF5OS1Oct 10, 2016
    GHR1Jan 24, 2017
    GLA2Sep 19, 2018
    GLI21Dec 20, 2017
    GPR1791Sep 19, 2018
    GRXCR11Dec 20, 2017
    GUCY2D2Mar 13, 2019
    HADHB1Sep 19, 2018
    HBA21Mar 13, 2019
    HBB1Oct 10, 2016
    HECW21Mar 13, 2019
    HEXB1Jan 24, 2017
    HNF1A2Dec 20, 2017
    HNF1B2Dec 20, 2017
    HNF4A1Jan 24, 2017
    HNRNPUL2-BSCL21Dec 7, 2016
    HOGA13Dec 20, 2017
    HPGD2Sep 19, 2018
    HSD11B21Apr 20, 2017
    HUWE11Sep 19, 2018
    IFITM51Sep 19, 2018
    IFT1402Mar 13, 2019
    IMPG23Sep 19, 2018
    INF212Mar 13, 2019
    ITGA41Dec 20, 2017
    JAG12Dec 7, 2016
    KCND31Apr 20, 2017
    KCNQ12Sep 19, 2018
    KIF111Dec 7, 2016
    KIRREL21Jan 24, 2017
    KMT2C1Mar 13, 2019
    KMT2D3Mar 13, 2019
    KRT11Apr 20, 2017
    KRT51Apr 20, 2017
    LAMB22Mar 13, 2019
    LDLR2Apr 20, 2017
    LMX1B5Mar 13, 2019
    LOC1027238331Oct 10, 2016
    LOC10537104914Mar 13, 2019
    LOC1053715662Sep 19, 2018
    LOC1060990621Oct 10, 2016
    LOC1065017131Dec 7, 2016
    LOC1067998332Dec 20, 2017
    LOC1068046121Mar 13, 2019
    LOC1071335101Oct 10, 2016
    LOC1075481121Apr 20, 2017
    LOC1076524451Mar 13, 2019
    LOC1079822342Dec 20, 2017
    LOC1118119651Dec 7, 2016
    LRP51Mar 13, 2019
    LRRK21Apr 20, 2017
    MARS11Mar 13, 2019
    MCCC21Dec 20, 2017
    MECP21Jan 24, 2017
    MERTK2Mar 13, 2019
    MFF-DT40Mar 13, 2019
    MKKS1Dec 20, 2017
    MLH11Dec 7, 2016
    MMAB1Dec 20, 2017
    MMACHC1Apr 20, 2017
    MYBPC31Dec 20, 2017
    MYH71Mar 13, 2019
    MYH97Mar 13, 2019
    MYO15A3Sep 19, 2018
    MYO7A3Apr 20, 2017
    NEUROD11Mar 13, 2019
    NEXN1Sep 19, 2018
    NF110Mar 13, 2019
    NMNAT11Mar 13, 2019
    NOC3L1Oct 10, 2016
    NOG1Sep 19, 2018
    NOTCH21Mar 13, 2019
    NOTCH32Dec 20, 2017
    NPHP41Sep 19, 2018
    NPHS14Sep 19, 2018
    NPHS28Mar 13, 2019
    NR3C21Dec 20, 2017
    NUP933Mar 13, 2019
    OAT1Sep 19, 2018
    OSGEP1Sep 19, 2018
    OTOGL1Mar 13, 2019
    P3H11Dec 20, 2017
    P3H21Mar 13, 2019
    PACS21Mar 13, 2019
    PALB21Dec 7, 2016
    PAX23Mar 13, 2019
    PAX41Apr 20, 2017
    PAX62Apr 20, 2017
    PDE6B1Dec 20, 2017
    PDE6C1Sep 19, 2018
    PHEX1Dec 20, 2017
    PHF33Sep 19, 2018
    PHKA21Dec 20, 2017
    PKD174Mar 13, 2019
    PKD210Mar 13, 2019
    PKHD19Mar 13, 2019
    PLCE13Mar 13, 2019
    PMS21Mar 13, 2019
    PNLIP1Dec 20, 2017
    PNPO2Dec 20, 2017
    POLR2F2Mar 13, 2019
    PROC2Dec 20, 2017
    PRPF313Sep 19, 2018
    PRPH22Sep 19, 2018
    RAX22Mar 13, 2019
    RB14Mar 13, 2019
    REN1Apr 20, 2017
    RFT11Dec 20, 2017
    RHO1Mar 13, 2019
    RLIM1Mar 13, 2019
    RP11Dec 20, 2017
    RP1L11Oct 10, 2016
    RP21Mar 13, 2019
    RPGR1Dec 20, 2017
    RPGRIP1L1Apr 20, 2017
    RPL36A-HNRNPH22Sep 19, 2018
    RSPO42Jan 24, 2017
    RUNX21Dec 7, 2016
    SCN5A1Apr 20, 2017
    SEC631Dec 20, 2017
    SERPINF11Apr 20, 2017
    SGPL11Sep 19, 2018
    SHANK31Dec 20, 2017
    SHOX3Mar 13, 2019
    SHROOM41Mar 13, 2019
    SLC12A12Oct 10, 2016
    SLC12A34Mar 13, 2019
    SLC22A51Dec 20, 2017
    SLC26A31Mar 13, 2019
    SLC2A21Dec 20, 2017
    SLC34A14Mar 13, 2019
    SLC34A34Dec 20, 2017
    SLC37A41Apr 20, 2017
    SLC38A81Dec 7, 2016
    SLC4A11Apr 20, 2017
    SLC5A23Dec 20, 2017
    SLC6A81Mar 13, 2019
    SLCO2A11Apr 20, 2017
    SMARCAL14Mar 13, 2019
    SOX102Mar 13, 2019
    TBX61Sep 19, 2018
    TECTA1Sep 19, 2018
    THBD1Apr 20, 2017
    THRB1Jan 24, 2017
    TOPORS1Sep 19, 2018
    TP531Apr 20, 2017
    TP631Jan 24, 2017
    TRIO1Mar 13, 2019
    TRPC67Mar 13, 2019
    TRPM12Apr 20, 2017
    TSC23Mar 13, 2019
    TTC21B2Mar 13, 2019
    TTC21B-AS11Mar 13, 2019
    TTLL52Dec 20, 2017
    TUBB2A1Mar 13, 2019
    USH1C2Sep 19, 2018
    USH2A11Mar 13, 2019
    VIPAS392Dec 20, 2017
    VPS13C1Sep 19, 2018
    VPS33B1Dec 20, 2017
    WNT10B1Dec 20, 2017
    WT17Mar 13, 2019
    WWOX1Dec 7, 2016
    XDH1Mar 13, 2019
    ZDHHC241Dec 20, 2017
    ZFP571Dec 20, 2017

    Condition

    NameSubmissionsLast Updated
    22q13.3 deletion syndrome1Dec 20, 2017
    3-methylcrotonyl CoA carboxylase 2 deficiency1Dec 20, 2017
    Achondrogenesis, type II1Apr 20, 2017
    Achondroplasia1Sep 19, 2018
    Adult hypophosphatasia1Mar 13, 2019
    Adult junctional epidermolysis bullosa1Dec 20, 2017
    Alagille syndrome 12Dec 7, 2016
    Alagille syndrome 21Mar 13, 2019
    Alport syndrome 1, X-linked recessive57Mar 13, 2019
    Alport syndrome 3, autosomal dominant86Mar 13, 2019
    Alport syndrome, autosomal recessive11Dec 20, 2017
    Aniridia 12Apr 20, 2017
    Anonychia2Jan 24, 2017
    Apparent mineralocorticoid excess1Apr 20, 2017
    Arrhythmogenic right ventricular cardiomyopathy, type 81Sep 19, 2018
    Arthrogryposis renal dysfunction cholestasis syndrome1Dec 20, 2017
    Arthrogryposis, renal dysfunction, and cholestasis 22Dec 20, 2017
    Atypical hemolytic-uremic syndrome 18Mar 13, 2019
    Atypical hemolytic-uremic syndrome 25Mar 13, 2019
    Atypical hemolytic-uremic syndrome 35Mar 13, 2019
    Atypical hemolytic-uremic syndrome 43Dec 7, 2016
    Atypical hemolytic-uremic syndrome 52Sep 19, 2018
    Atypical hemolytic-uremic syndrome 61Apr 20, 2017
    Autism, susceptibility to, 181Mar 13, 2019
    Autosomal recessive hypophosphatemic bone disease4Dec 20, 2017
    Autosomal recessive polycystic kidney disease9Mar 13, 2019
    Bardet-Biedl syndrome 11Dec 20, 2017
    Bardet-Biedl syndrome 41Jan 24, 2017
    Bardet-Biedl syndrome 61Dec 20, 2017
    Bardet-Biedl syndrome 91Oct 10, 2016
    Bartter syndrome type 31Dec 7, 2016
    Bartter syndrome, type 1, antenatal2Oct 10, 2016
    Beckwith-Wiedemann syndrome1Jan 24, 2017
    Bestrophinopathy, autosomal recessive6Sep 19, 2018
    Blepharophimosis, ptosis, and epicanthus inversus1Jan 24, 2017
    Brugada syndrome 11Apr 20, 2017
    Brugada syndrome 91Apr 20, 2017
    Bullous ichthyosiform erythroderma1Apr 20, 2017
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy2Dec 20, 2017
    Charcot-Marie-Tooth disease, axonal, type 2u1Mar 13, 2019
    Chondroectodermal dysplasia2Dec 20, 2017
    Choroideremia3Mar 13, 2019
    Ciliary dyskinesia, primary, 31Dec 20, 2017
    Citrullinemia type I1Sep 19, 2018
    Cleidocranial dysostosis1Dec 7, 2016
    Coenzyme Q10 deficiency, primary 11Dec 20, 2017
    Complement component 3 deficiency, autosomal recessive1Sep 19, 2018
    Complement component 7 deficiency2Mar 13, 2019
    Cone dystrophy 41Sep 19, 2018
    Cone-rod dystrophy 112Mar 13, 2019
    Cone-rod dystrophy 192Dec 20, 2017
    Cone-rod dystrophy 211Dec 7, 2016
    Cone-rod dystrophy 311Mar 13, 2019
    Cone-rod dystrophy 61Mar 13, 2019
    Cone-rod dystrophy X-linked 31Dec 7, 2016
    Cone-rod dystrophy amelogenesis imperfecta1Mar 13, 2019
    Congenital disorder of glycosylation type 1N1Dec 20, 2017
    Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Mar 13, 2019
    Congenital secretory diarrhea, chloride type1Mar 13, 2019
    Congenital stationary night blindness, type 1C2Apr 20, 2017
    Congenital stationary night blindness, type 1E1Sep 19, 2018
    Congenital stationary night blindness, type 2B1Mar 13, 2019
    Cortical dysplasia, complex, with other brain malformations 51Mar 13, 2019
    Creatine deficiency, X-linked1Mar 13, 2019
    Crouzon syndrome1Dec 7, 2016
    Culler-Jones syndrome1Dec 20, 2017
    Deafness, autosomal dominant 11Sep 19, 2018
    Deafness, autosomal dominant 121Sep 19, 2018
    Deafness, autosomal recessive 182Sep 19, 2018
    Deafness, autosomal recessive 251Dec 20, 2017
    Deafness, autosomal recessive 291Sep 19, 2018
    Deafness, autosomal recessive 33Sep 19, 2018
    Deafness, autosomal recessive 84b1Mar 13, 2019
    Deficiency of steroid 11-beta-monooxygenase2Dec 20, 2017
    Deficiency of xanthine oxidase1Mar 13, 2019
    Dent disease 11Jan 24, 2017
    Diabetes mellitus type 21Apr 20, 2017
    Diffuse mesangial sclerosis7Mar 13, 2019
    Dilated cardiomyopathy 1CC1Sep 19, 2018
    EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 661Mar 13, 2019
    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31Jan 24, 2017
    Ehlers-Danlos syndrome, classic type1Apr 20, 2017
    Epidermolysis bullosa simplex, Koebner type1Apr 20, 2017
    Epileptic encephalopathy, early infantile, 281Dec 7, 2016
    FRASER SYNDROME 22Dec 20, 2017
    Fabry disease2Sep 19, 2018
    Familial X-linked hypophosphatemic vitamin D refractory rickets1Dec 20, 2017
    Familial adenomatous polyposis 12Mar 13, 2019
    Familial cancer of breast13Mar 13, 2019
    Familial hypercholesterolemia2Apr 20, 2017
    Familial hypertrophic cardiomyopathy 11Mar 13, 2019
    Familial hypertrophic cardiomyopathy 41Dec 20, 2017
    Familial hypokalemia-hypomagnesemia4Mar 13, 2019
    Familial hypoplastic, glomerulocystic kidney1Dec 20, 2017
    Familial partial lipodystrophy 31Dec 7, 2016
    Familial renal glucosuria3Dec 20, 2017
    Fanconi anemia, complementation group A1Mar 13, 2019
    Fanconi-Bickel syndrome1Dec 20, 2017
    Finnish congenital nephrotic syndrome6Mar 13, 2019
    Focal segmental glomerulosclerosis 15Mar 13, 2019
    Focal segmental glomerulosclerosis 27Mar 13, 2019
    Focal segmental glomerulosclerosis 3, susceptibility to4Mar 13, 2019
    Focal segmental glomerulosclerosis 512Mar 13, 2019
    Focal segmental glomerulosclerosis 72Mar 13, 2019
    Focal segmental glomerulosclerosis 83Mar 13, 2019
    Focal segmental glomerulosclerosis 93Dec 20, 2017
    Foveal hypoplasia 21Dec 7, 2016
    GALLOWAY-MOWAT SYNDROME 31Sep 19, 2018
    Generalized dominant dystrophic epidermolysis bullosa1Dec 7, 2016
    Glucose-6-phosphate transport defect1Apr 20, 2017
    Glutaric aciduria, type 11Jan 24, 2017
    Glutaric aciduria, type 21Dec 20, 2017
    Glycogen storage disease type III3Dec 20, 2017
    Glycogen storage disease type IXa11Dec 20, 2017
    Glycogen storage disease, type II3Dec 20, 2017
    Hereditary fructosuria2Apr 20, 2017
    Hereditary nonpolyposis colorectal cancer type 43Mar 13, 2019
    Homocystinuria due to CBS deficiency1Dec 20, 2017
    Hypercalcemia, infantile, 24Mar 13, 2019
    Hyperuricemic nephropathy, familial juvenile, 21Apr 20, 2017
    Hypocalciuric hypercalcemia, familial, type 11Jan 24, 2017
    Hypochondroplasia2Sep 19, 2018
    Hypohidrotic X-linked ectodermal dysplasia1Dec 20, 2017
    Infantile hypophosphatasia2Mar 13, 2019
    Joubert syndrome 51Apr 20, 2017
    Joubert syndrome 71Apr 20, 2017
    KLEEFSTRA SYNDROME 21Mar 13, 2019
    Kabuki syndrome 13Mar 13, 2019
    Kallmann syndrome 11Apr 20, 2017
    Kallmann syndrome 52Dec 20, 2017
    Kniest dysplasia1Sep 19, 2018
    Lambdoidal craniosynostosis1Mar 13, 2019
    Laron-type isolated somatotropin defect1Jan 24, 2017
    Leber congenital amaurosis 11Apr 20, 2017
    Leber congenital amaurosis 71Sep 19, 2018
    Leber congenital amaurosis 81Oct 10, 2016
    Leber congenital amaurosis 91Mar 13, 2019
    Li-Fraumeni syndrome 11Apr 20, 2017
    Long QT syndrome 12Sep 19, 2018
    Lynch syndrome II1Dec 7, 2016
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss7Mar 13, 2019
    Macular dystrophy, vitelliform, 51Sep 19, 2018
    Macular dystrophy, vitelliform, adult-onset2Sep 19, 2018
    Maple syrup urine disease3Jan 24, 2017
    Maturity-onset diabetes of the young, type 11Jan 24, 2017
    Maturity-onset diabetes of the young, type 23Dec 20, 2017
    Maturity-onset diabetes of the young, type 32Dec 20, 2017
    Maturity-onset diabetes of the young, type 61Mar 13, 2019
    Maturity-onset diabetes of the young, type 91Apr 20, 2017
    Megaloblastic anemia due to inborn errors of metabolism16Mar 13, 2019
    Melnick-Fraser syndrome1Dec 20, 2017
    Mental retardation, X-linked 611Mar 13, 2019
    Mental retardation, X-linked, syndromic, Turner type1Sep 19, 2018
    Mental retardation, autosomal dominant 191Mar 13, 2019
    Mental retardation, autosomal dominant 441Mar 13, 2019
    Methylmalonic acidemia with homocystinuria1Apr 20, 2017
    Methylmalonic aciduria cblB type1Dec 20, 2017
    Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Dec 7, 2016
    Mitochondrial trifunctional protein deficiency1Sep 19, 2018
    Multiple epiphyseal dysplasia 11Mar 13, 2019
    Muscular dystrophy, limb-girdle, type 2X1Mar 13, 2019
    Myopia, high, with cataract and vitreoretinal degeneration1Mar 13, 2019
    Nail-patella syndrome5Mar 13, 2019
    Nephrogenic diabetes insipidus, X-linked1Apr 20, 2017
    Nephronophthisis 41Sep 19, 2018
    Nephrotic syndrome type 141Sep 19, 2018
    Nephrotic syndrome, idiopathic, steroid-resistant8Mar 13, 2019
    Nephrotic syndrome, type 123Mar 13, 2019
    Nephrotic syndrome, type 33Mar 13, 2019
    Nephrotic syndrome, type 5, with or without ocular abnormalities2Mar 13, 2019
    Nephrotic syndrome, type 76Mar 13, 2019
    Nephrotic syndrome, type 91Sep 19, 2018
    Neurodevelopmental disorder with hypotonia, seizures, and absent language1Mar 13, 2019
    Neurofibromatosis, type 110Mar 13, 2019
    Neurohypophyseal diabetes insipidus1Dec 7, 2016
    Ornithine aminotransferase deficiency1Sep 19, 2018
    Osteochondritis dissecans1Mar 13, 2019
    Osteogenesis imperfecta type 51Sep 19, 2018
    Osteogenesis imperfecta type 81Dec 20, 2017
    Osteogenesis imperfecta type I7Mar 13, 2019
    Osteogenesis imperfecta, recessive perinatal lethal1Sep 19, 2018
    Osteogenesis imperfecta, type VI1Apr 20, 2017
    Osteogenesis imperfecta, type XI1Apr 20, 2017
    Osteopetrosis autosomal dominant type 11Mar 13, 2019
    Osteopetrosis autosomal dominant type 21Apr 20, 2017
    Osteopetrosis with renal tubular acidosis1Dec 20, 2017
    PILAROWSKI-BJORNSSON SYNDROME2Mar 13, 2019
    Pachydermoperiostosis syndrome2Sep 19, 2018
    Pancreatic lipase deficiency1Dec 20, 2017
    Parkinson disease 23, autosomal recessive early-onset1Sep 19, 2018
    Parkinson disease 8, autosomal dominant1Apr 20, 2017
    Periventricular nodular heterotopia 11Dec 7, 2016
    Persistent hyperinsulinemic hypoglycemia of infancy1Oct 10, 2016
    Polyarteritis nodosa, childhoood-onset1Dec 20, 2017
    Polycystic kidney disease 210Mar 13, 2019
    Polycystic kidney disease, adult type74Mar 13, 2019
    Polycystic liver disease 21Dec 20, 2017
    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1Oct 10, 2016
    Porphobilinogen synthase deficiency1Dec 20, 2017
    Primary hyperoxaluria, type III3Dec 20, 2017
    Primary hypertrophic osteoarthropathy, autosomal recessive 21Apr 20, 2017
    Primary hypomagnesemia1Apr 20, 2017
    Proximal symphalangism1Sep 19, 2018
    Pseudohypoaldosteronism type 1 autosomal dominant1Dec 20, 2017
    Pyridoxal 5'-phosphate-dependent epilepsy2Dec 20, 2017
    Renal carnitine transport defect1Dec 20, 2017
    Renal coloboma syndrome1Mar 13, 2019
    Renal tubular acidosis with progressive nerve deafness1Mar 13, 2019
    Renal tubular acidosis, distal, autosomal dominant1Apr 20, 2017
    Renal tubular acidosis, distal, autosomal recessive1Mar 13, 2019
    Retinitis pigmentosa 11Dec 20, 2017
    Retinitis pigmentosa 113Sep 19, 2018
    Retinitis pigmentosa 151Dec 20, 2017
    Retinitis pigmentosa 21Mar 13, 2019
    Retinitis pigmentosa 255Mar 13, 2019
    Retinitis pigmentosa 262Dec 20, 2017
    Retinitis pigmentosa 311Sep 19, 2018
    Retinitis pigmentosa 382Mar 13, 2019
    Retinitis pigmentosa 395Mar 13, 2019
    Retinitis pigmentosa 41Mar 13, 2019
    Retinitis pigmentosa 401Dec 20, 2017
    Retinitis pigmentosa 451Dec 7, 2016
    Retinitis pigmentosa 562Dec 20, 2017
    Retinitis pigmentosa 802Mar 13, 2019
    Retinoblastoma2Mar 13, 2019
    Rett syndrome1Jan 24, 2017
    Rubinstein-Taybi syndrome 12Dec 20, 2017
    Sandhoff disease1Jan 24, 2017
    Schimke immunoosseous dysplasia4Mar 13, 2019
    Short stature, idiopathic, X-linked3Mar 13, 2019
    Split-hand/foot malformation 61Dec 20, 2017
    Spondylocostal dysostosis 51Sep 19, 2018
    Spondyloepimetaphyseal dysplasia with joint laxity1Dec 20, 2017
    Stickler syndrome type 11Mar 13, 2019
    Stocco dos Santos syndrome1Mar 13, 2019
    Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2Dec 20, 2017
    Thyroid hormone resistance, generalized, autosomal dominant1Jan 24, 2017
    Transient neonatal diabetes mellitus 11Dec 20, 2017
    Tuberous sclerosis 23Mar 13, 2019
    Type C brachydactyly1Oct 10, 2016
    Tyrosinemia type I1Mar 13, 2019
    Ulnar/fibular ray defect and brachydactyly1Oct 10, 2016
    Upshaw-Schulman syndrome2Apr 20, 2017
    Usher syndrome, type 13Apr 20, 2017
    Usher syndrome, type 1D2Sep 19, 2018
    Usher syndrome, type 2A6Mar 13, 2019
    Usher syndrome, type 2C5Mar 13, 2019
    Usher syndrome, type 3A1Sep 19, 2018
    Very long chain acyl-CoA dehydrogenase deficiency1Dec 20, 2017
    Vici syndrome1Dec 7, 2016
    Waardenburg syndrome type 2E2Mar 13, 2019
    Wolcott-Rallison dysplasia1Dec 20, 2017
    alpha Thalassemia1Mar 13, 2019
    beta Thalassemia1Oct 10, 2016
    Support Center