U.S. flag

An official website of the United States government

GenomeConnect - Brain Gene Registry, GenomeConnect - BGR

General information

GenomeConnect - Brain Gene Registry, GenomeConnect - BGR

120 Hamm Drive, 2nd floor
Lewisburg
Pennsylvania
United States - 17837
https://braingeneregistry.wustl.edu/
Organization ID: 508359

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 624

    Gene

    GeneSubmissionsLast Updated
    AARS12Mar 14, 2024
    ABCA122Aug 18, 2022
    ACADVL1Dec 6, 2022
    ACTB1Jul 11, 2023
    ACVRL11Feb 21, 2023
    ADAR1May 25, 2023
    ADNP1Apr 18, 2023
    ADRA2B1Jul 11, 2023
    ADSL2Jul 12, 2022
    AFF41Feb 21, 2023
    AFG2A3Mar 14, 2024
    AGRN2Jul 11, 2023
    AIFM11Sep 1, 2023
    ALDH7A11Jul 11, 2023
    ALG11May 25, 2023
    ALMS11Dec 6, 2022
    AMER11Mar 14, 2024
    AMPD21May 25, 2023
    AMT1Mar 22, 2022
    ANK32Mar 14, 2024
    ANKHD11Sep 1, 2023
    ANKHD1-EIF4EBP31Sep 1, 2023
    ANKRD112Mar 14, 2024
    ANKRD171Dec 7, 2021
    AP4E11Mar 14, 2024
    APOB1Nov 28, 2023
    ARHGEF93Mar 14, 2024
    ARID1B6Mar 14, 2024
    ASH1L6Nov 28, 2023
    ASXL33Mar 14, 2024
    ATL11Mar 14, 2024
    ATM1May 25, 2023
    ATP1A22Mar 14, 2024
    ATP2B21Jul 11, 2023
    ATR1May 25, 2023
    ATRX1Mar 14, 2024
    AUTS23Mar 14, 2024
    AVEN1Aug 18, 2022
    B4GALNT42May 25, 2023
    BDP11Mar 14, 2024
    BRCA11Dec 6, 2022
    C11orf651May 25, 2023
    CACNA1A18Mar 21, 2024
    CACNA1H3May 25, 2023
    CACNB42May 25, 2023
    CAMTA11May 25, 2023
    CASR1May 25, 2023
    CBS1Nov 28, 2023
    CC2D1A1Dec 7, 2021
    CCDC401Jul 11, 2023
    CCDC85C1May 25, 2023
    CCDC88C1Feb 21, 2023
    CCDST2Mar 21, 2024
    CCNK1May 25, 2023
    CDK132May 25, 2023
    CDK5RAP21Mar 22, 2022
    CHAMP13Nov 28, 2023
    CHD21Sep 1, 2023
    CHD43Feb 21, 2023
    CHD82May 25, 2023
    CHRNA22May 25, 2023
    CHRNA42Sep 1, 2023
    CHRNB21May 25, 2023
    CIT1May 25, 2023
    CLCN11Dec 6, 2022
    CLN81Dec 7, 2021
    CNTN41May 25, 2023
    CNTNAP21May 25, 2023
    COG72May 25, 2023
    COL11A21Jul 11, 2023
    COL18A11Sep 1, 2023
    COL1A22Mar 14, 2024
    COL2A11Sep 1, 2023
    COL4A21Jul 12, 2022
    COQ61Sep 1, 2023
    COQ8B1Sep 1, 2023
    CPLANE12Mar 14, 2024
    CREBBP3Mar 21, 2024
    CSTB1Jul 12, 2022
    CTCF6May 25, 2023
    CTNNB11Apr 18, 2023
    CTSF3Mar 14, 2024
    CUL4B1Feb 21, 2023
    CUX11Jul 12, 2022
    CYC11Sep 1, 2023
    DARS21Mar 14, 2024
    DDX3X4Mar 14, 2024
    DEAF13May 25, 2023
    DEPDC52May 25, 2023
    DHTKD11Mar 14, 2024
    DIAPH11Sep 1, 2023
    DLG45Mar 21, 2024
    DMD3May 25, 2023
    DNA21Mar 14, 2024
    DNHD12Mar 14, 2024
    DNMT3A8Nov 28, 2023
    DPPA22Mar 14, 2024
    DPYD1Jul 11, 2023
    DSP1Dec 7, 2021
    DYNC1H15Jul 11, 2023
    DYRK1A2May 25, 2023
    EEF1A21Mar 14, 2024
    EIF2B52Sep 1, 2023
    ELP23May 25, 2023
    ELP41Mar 14, 2024
    ENG1Mar 14, 2024
    ENTPD51Sep 1, 2023
    EP3001Dec 7, 2021
    EPS81May 25, 2023
    F72Mar 14, 2024
    FAAH21Mar 14, 2024
    FAT21Nov 28, 2023
    FBXO311Sep 1, 2023
    FBXW111Mar 1, 2022
    FLG2Mar 21, 2024
    FMN22Mar 14, 2024
    FOXE31Jul 12, 2022
    FOXG12Mar 14, 2024
    FOXP12May 25, 2023
    FRRS1L1Sep 1, 2023
    FTCD1Mar 14, 2024
    FTO1May 25, 2023
    GABRB31Nov 28, 2023
    GALC2Mar 21, 2024
    GATAD2B1Sep 1, 2023
    GATM1Mar 14, 2024
    GBA11Mar 14, 2024
    GCDH1Nov 28, 2023
    GJB21Jul 11, 2023
    GLDC2Mar 14, 2024
    GLI31May 25, 2023
    GNAI11Mar 14, 2024
    GNAO11Nov 28, 2023
    GPR611May 6, 2022
    GRIA11May 25, 2023
    GRIA21Mar 14, 2024
    GRIA41Mar 14, 2024
    GRIK21Jul 12, 2022
    GRIN2A2Mar 21, 2024
    GRIN2B3May 25, 2023
    HBA-LCR2May 25, 2023
    HBB1May 25, 2023
    HCN11May 25, 2023
    HECW22Mar 14, 2024
    HEPACAM2Jul 12, 2022
    HERC22Mar 14, 2024
    HFE1May 25, 2023
    HIVEP22Sep 1, 2023
    HNRNPU4May 25, 2023
    HNRNPUL11Aug 18, 2022
    IFIH11Mar 14, 2024
    IGLL11Jul 11, 2023
    ITPR11Jul 11, 2023
    JMJD1C1May 25, 2023
    KANSL12May 25, 2023
    KAT6A3Mar 14, 2024
    KCNK91Nov 28, 2023
    KCNMA12Mar 14, 2024
    KCNMA1-AS11Mar 14, 2024
    KCNQ12May 25, 2023
    KCNQ22May 25, 2023
    KDM5B2May 25, 2023
    KDM5C7Nov 28, 2023
    KIDINS2201Feb 21, 2023
    KIF111Mar 14, 2024
    KIF1A6Mar 14, 2024
    KIF4A1Mar 21, 2024
    KMT2A5Jul 11, 2023
    KMT2C2Mar 14, 2024
    KMT2D1May 25, 2023
    KNL13Mar 14, 2024
    KRTAP1-31Dec 6, 2022
    KXD11Aug 18, 2022
    LAMA11Mar 14, 2024
    LAMB11Mar 14, 2024
    LAMC31Mar 14, 2024
    LIAS2May 25, 2023
    LINC013891Jul 12, 2022
    LOC1027235661Mar 14, 2024
    LOC1060990621May 25, 2023
    LOC1066279811Mar 14, 2024
    LOC1071335101May 25, 2023
    LOC1268056031May 25, 2023
    LOC1268066591Apr 18, 2023
    LOC1268615091May 25, 2023
    LOC1268618881May 25, 2023
    LOC1268624791Mar 14, 2024
    LOC1268629111Aug 18, 2022
    LOC1268630871Sep 1, 2023
    LOC1278142972Jul 11, 2023
    LOC1300035741May 25, 2023
    LOC1300035761May 25, 2023
    LOC1300591561Sep 1, 2023
    MAGEL23Nov 28, 2023
    MAPK8IP32Jul 11, 2023
    MBD53Apr 18, 2023
    MBD61May 25, 2023
    MCPH11Mar 22, 2022
    MECP21Mar 14, 2024
    MED121Jul 11, 2023
    MED13L3Mar 14, 2024
    MED233May 25, 2023
    MEPE1May 6, 2022
    MMP91Mar 14, 2024
    MN11May 6, 2022
    MOCS11Mar 14, 2024
    MT-ATP61May 25, 2023
    MT-TC1May 25, 2023
    MT-TL11Sep 1, 2023
    MT-TP1Feb 21, 2023
    MUC172Mar 14, 2024
    MVK1May 25, 2023
    MYH71Mar 3, 2022
    MYO18A2Mar 14, 2024
    MYO7A1Mar 14, 2024
    MYO7B2Dec 7, 2021
    MYO9A1Jul 11, 2023
    MYT1L7Mar 14, 2024
    NAALADL11Mar 14, 2024
    NCAPH22Mar 14, 2024
    NCF41Jul 11, 2023
    NEXMIF1May 25, 2023
    NF11May 25, 2023
    NFIX1Mar 14, 2024
    NLGN31May 6, 2022
    NOTCH11Dec 7, 2021
    NPRL21May 25, 2023
    NPRL33Mar 14, 2024
    NRXN21May 25, 2023
    NSD12Nov 28, 2023
    NT5C21Nov 28, 2023
    OGT1May 25, 2023
    OPHN13Mar 14, 2024
    OTUD41Mar 14, 2024
    P2RX21Mar 14, 2024
    PAFAH1B12Mar 14, 2024
    PAK42Mar 14, 2024
    PAX62Mar 14, 2024
    PCDH191Nov 28, 2023
    PCDHB41Dec 6, 2022
    PCDHB@1Dec 6, 2022
    PDE4DIP2Mar 14, 2024
    PDK11Aug 18, 2022
    PDS5A1May 25, 2023
    PEX31Sep 1, 2023
    PGD1Mar 14, 2024
    PIGG1May 25, 2023
    PIK3CA1Mar 14, 2024
    PIK3R51May 25, 2023
    PMM21May 25, 2023
    PNPO1Nov 28, 2023
    POLG3Nov 28, 2023
    POLGARF3Nov 28, 2023
    POMT21Mar 22, 2022
    POU4F32Jul 11, 2023
    PPP2R1A5Mar 14, 2024
    PQBP11May 25, 2023
    PRICKLE12Mar 14, 2024
    PROP11Jul 11, 2023
    PRSS121Dec 7, 2021
    PTCH13Feb 21, 2023
    PTEN11Mar 14, 2024
    PTPN111May 25, 2023
    RAB33A1Sep 1, 2023
    RAD54L22Aug 18, 2022
    RAI11May 25, 2023
    RBM101May 25, 2023
    RBMX1Aug 18, 2022
    RELN1Mar 14, 2024
    RET2May 25, 2023
    RNASEH11Sep 1, 2023
    RYR33Mar 14, 2024
    SATB22Nov 28, 2023
    SCN2A7Sep 1, 2023
    SCN5A1Mar 14, 2024
    SCN8A1Mar 14, 2024
    SCP21Dec 7, 2021
    SET1Sep 1, 2023
    SETBP14Mar 14, 2024
    SETD1B1Jul 14, 2022
    SETD22Jul 11, 2023
    SETD511Mar 14, 2024
    SHANK31Sep 1, 2023
    SIN3A1Nov 28, 2023
    SLC19A31Jul 11, 2023
    SLC2A11Feb 21, 2023
    SLC36A11Nov 28, 2023
    SLC6A119Mar 14, 2024
    SLC6A1-AS14Mar 14, 2024
    SLC6A81Sep 1, 2023
    SLC9A11Mar 14, 2024
    SMARCA21May 25, 2023
    SMC1A1Mar 14, 2024
    SMPD11Dec 7, 2021
    SNCB1Jul 11, 2023
    SNHG311Aug 18, 2022
    SNX141Mar 14, 2024
    SNX271Jul 11, 2023
    SON1May 25, 2023
    SPART1Mar 14, 2024
    SPAST7May 25, 2023
    SPG72Nov 28, 2023
    SPTAN11Feb 21, 2023
    ST3GAL51Dec 6, 2022
    STAG12Nov 28, 2023
    STAG21Sep 1, 2023
    STIL1May 25, 2023
    STXBP11May 25, 2023
    SYN13Jul 11, 2023
    SYNE41Dec 6, 2022
    SYNGAP113Mar 14, 2024
    SYNGAP1-AS110Mar 14, 2024
    SZT25Mar 14, 2024
    TBC1D232May 25, 2023
    TBC1D243Mar 14, 2024
    TBL1XR12Sep 1, 2023
    TBL1XR1-AS11Mar 3, 2022
    TBX13May 25, 2023
    TECPR21May 25, 2023
    TGM11Dec 7, 2021
    TK21Sep 1, 2023
    TMLHE1May 25, 2023
    TPP11Mar 14, 2024
    TRAPPC91Apr 18, 2023
    TRIO1Mar 14, 2024
    TRIOBP1Dec 6, 2022
    TRIP122Mar 14, 2024
    TRPM31Nov 28, 2023
    TRRAP1May 25, 2023
    TTN2Dec 7, 2021
    TTN-AS12Dec 7, 2021
    TUBB2A1May 25, 2023
    TUBB2B1May 25, 2023
    TUBB37Nov 28, 2023
    TUBB4A1Nov 28, 2023
    UNC803May 25, 2023
    URB12Aug 18, 2022
    USP9X3Mar 14, 2024
    VLDLR2Mar 14, 2024
    VPS13A1May 25, 2023
    VPS13D1Nov 28, 2023
    WAC5May 25, 2023
    WAS1Mar 14, 2024
    WDFY32Mar 14, 2024
    WNT10A1May 25, 2023
    ZBTB187Mar 14, 2024
    ZDHHC91Feb 21, 2023
    ZEB21Jul 11, 2023
    ZIC21May 25, 2023
    ZMYND101Mar 14, 2024
    ZMYND112May 25, 2023
    ZNF7112Dec 7, 2021

    Condition

    NameSubmissionsLast Updated
    2-aminoadipic 2-oxoadipic aciduria1Mar 14, 2024
    ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Apr 18, 2023
    ADRA2B-related disorder1Jul 11, 2023
    ALG1-congenital disorder of glycosylation1May 25, 2023
    ARHGEF9-related disorder1Dec 7, 2021
    ARHGEF9-related neurodevelopmental disorder1Feb 21, 2023
    Achondrogenesis type II1Sep 1, 2023
    Adams-Oliver syndrome 51Dec 7, 2021
    Adenylosuccinate lyase deficiency2Jul 12, 2022
    Agammaglobulinemia 2, autosomal recessive1Jul 11, 2023
    Aicardi-Goutieres syndrome 61May 25, 2023
    Alstrom syndrome1Dec 6, 2022
    Alternating hemiplegia of childhood 12Mar 14, 2024
    Aniridia 11Mar 14, 2024
    Arginine:glycine amidinotransferase deficiency1Mar 14, 2024
    Arrhythmogenic right ventricular dysplasia 82Mar 18, 2022
    Ataxia with oculomotor apraxia type 31May 25, 2023
    Ataxia-telangiectasia syndrome1May 25, 2023
    Autism1May 25, 2023
    Autism spectrum disorder11Oct 3, 2023
    Autism spectrum disorder due to AUTS2 deficiency3Mar 14, 2024
    Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4May 25, 2023
    Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Mar 14, 2024
    Autosomal dominant nocturnal frontal lobe epilepsy1May 25, 2023
    Autosomal dominant nocturnal frontal lobe epilepsy 12Sep 1, 2023
    Autosomal dominant nocturnal frontal lobe epilepsy 31May 25, 2023
    Autosomal dominant nocturnal frontal lobe epilepsy 42May 25, 2023
    Autosomal dominant nonsyndromic hearing loss 152Jul 11, 2023
    Autosomal dominant nonsyndromic hearing loss 3A1Jul 11, 2023
    Autosomal dominant nonsyndromic hearing loss 411Mar 14, 2024
    Autosomal dominant nonsyndromic hearing loss 651Mar 14, 2024
    Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1Nov 28, 2023
    Autosomal recessive congenital ichthyosis 11Dec 7, 2021
    Autosomal recessive congenital ichthyosis 4A2Aug 18, 2022
    Autosomal recessive congenital ichthyosis 4B2Aug 18, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2J2Dec 7, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2N1Mar 22, 2022
    Autosomal recessive nonsyndromic hearing loss 1021May 25, 2023
    Autosomal recessive nonsyndromic hearing loss 121Jul 11, 2023
    Autosomal recessive nonsyndromic hearing loss 1A1Jul 11, 2023
    Autosomal recessive nonsyndromic hearing loss 861Mar 14, 2024
    Bannayan-Riley-Ruvalcaba syndrome5Mar 14, 2024
    Baraitser-Winter syndrome 11Jul 11, 2023
    Becker muscular dystrophy3May 25, 2023
    Benign familial neonatal-infantile seizures 12Sep 1, 2023
    Biotin-responsive basal ganglia disease1Jul 11, 2023
    Birk-Barel syndrome1Nov 28, 2023
    Brain malformation1Jul 12, 2022
    Brugada syndrome 11Mar 14, 2024
    CACNA1A-related disorder1Nov 28, 2023
    CAMTA1-related disorder1May 25, 2023
    CDK13-related disorder1Feb 21, 2023
    CEBALID syndrome1May 6, 2022
    CHD4-related disorder1Feb 21, 2023
    COG7 congenital disorder of glycosylation2May 25, 2023
    COL11A2-related disorder1Jul 11, 2023
    COL4A2-related disorder1Jul 12, 2022
    CTCF-related disorder1Feb 21, 2023
    CTNNB1-related disorder1Apr 18, 2023
    CUL4B-related disorder1Feb 21, 2023
    Café-au-lait macules with pulmonary stenosis1May 25, 2023
    Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Mar 14, 2024
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12Mar 14, 2024
    Cerebellar atrophy, developmental delay, and seizures1Mar 14, 2024
    Charcot-Marie-Tooth disease X-linked recessive 41Sep 1, 2023
    Charcot-Marie-Tooth disease axonal type 2N1Sep 1, 2023
    Charcot-Marie-Tooth disease axonal type 2O4May 25, 2023
    Chopra-Amiel-Gordon syndrome1Dec 7, 2021
    Chorea-acanthocytosis1May 25, 2023
    Chromosome 2p25.3 deletion syndrome1May 9, 2022
    Chromosome Xq28 duplication syndrome1Jul 11, 2023
    Clark-Baraitser syndrome2Mar 14, 2024
    Classic homocystinuria1Nov 28, 2023
    Coffin-Siris syndrome1Jul 11, 2023
    Coffin-Siris syndrome 15Mar 14, 2024
    Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Feb 21, 2023
    Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 22Mar 14, 2024
    Complex cortical dysplasia with other brain malformations 14Nov 28, 2023
    Complex cortical dysplasia with other brain malformations 51May 25, 2023
    Complex cortical dysplasia with other brain malformations 71May 25, 2023
    Complex neurodevelopmental disorder2Jul 11, 2023
    Congenital Fibrosis of the Extraocular Muscles 1B1Mar 3, 2022
    Congenital aniridia1May 6, 2022
    Congenital factor VII deficiency2Mar 14, 2024
    Congenital fibrosis of extraocular muscles1Jul 12, 2022
    Congenital fibrosis of extraocular muscles type 11Mar 3, 2022
    Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 25, 2023
    Congenital myasthenic syndrome 82Jul 11, 2023
    Congenital myopathy with fiber type disproportion1Mar 3, 2022
    Congenital myotonia, autosomal recessive form1Dec 6, 2022
    Conotruncal heart malformations2May 25, 2023
    Continuous spikes and waves during sleep2May 25, 2023
    Cortical dysplasia-focal epilepsy syndrome1May 25, 2023
    Cowden syndrome3Aug 31, 2023
    Cowden syndrome 13Mar 14, 2024
    Creatine transporter deficiency1Sep 1, 2023
    DEAF1-related disorder1May 25, 2023
    DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome1Sep 1, 2023
    DNMT3A-related disorder1Dec 6, 2022
    DOORS syndrome2Mar 14, 2024
    DYNC1H1-related disorder1Jul 11, 2023
    DYRK1A-related intellectual disability syndrome2May 25, 2023
    DeSanto-Shinawi syndrome3May 25, 2023
    DeSanto-Shinawi syndrome due to WAC point mutation4May 25, 2023
    Deafness1May 25, 2023
    Dermatitis, atopic, 22Mar 21, 2024
    Developmental and epileptic encephalopathy, 13Sep 1, 2023
    Developmental and epileptic encephalopathy, 113Sep 1, 2023
    Developmental and epileptic encephalopathy, 131Mar 14, 2024
    Developmental and epileptic encephalopathy, 162Mar 14, 2024
    Developmental and epileptic encephalopathy, 171Nov 28, 2023
    Developmental and epileptic encephalopathy, 184Mar 14, 2024
    Developmental and epileptic encephalopathy, 241May 25, 2023
    Developmental and epileptic encephalopathy, 291Sep 1, 2023
    Developmental and epileptic encephalopathy, 371Sep 1, 2023
    Developmental and epileptic encephalopathy, 41May 25, 2023
    Developmental and epileptic encephalopathy, 426Mar 14, 2024
    Developmental and epileptic encephalopathy, 431Nov 28, 2023
    Developmental and epileptic encephalopathy, 51Feb 21, 2023
    Developmental and epileptic encephalopathy, 542May 25, 2023
    Developmental and epileptic encephalopathy, 71May 6, 2022
    Developmental and epileptic encephalopathy, 81Mar 14, 2024
    Developmental and epileptic encephalopathy, 91Nov 28, 2023
    Developmental delay with autism spectrum disorder and gait instability1May 25, 2023
    Developmental delay with or without dysmorphic facies and autism1May 25, 2023
    DiGeorge syndrome3May 25, 2023
    Diabetes-deafness syndrome maternally transmitted1Sep 1, 2023
    Dihydropyrimidine dehydrogenase deficiency1Jul 11, 2023
    Dilated cardiomyopathy 1E1Mar 14, 2024
    Dilated cardiomyopathy 1G2Dec 7, 2021
    Dilated cardiomyopathy 1S1Mar 3, 2022
    Duchenne muscular dystrophy3May 25, 2023
    Early Infantile Epileptic Encephalopathy, Autosomal Dominant2Dec 6, 2022
    Early-onset myopathy with fatal cardiomyopathy2Dec 7, 2021
    Ehlers-Danlos syndrome, cardiac valvular type2Mar 14, 2024
    Ehlers-danlos syndrome, arthrochalasia type, 22Mar 14, 2024
    Encephalopathy due to GLUT1 deficiency1Feb 21, 2023
    Epilepsy1Dec 6, 2022
    Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Jul 11, 2023
    Epilepsy, childhood absence, susceptibility to, 51Nov 28, 2023
    Epilepsy, childhood absence, susceptibility to, 63May 25, 2023
    Epilepsy, familial focal, with variable foci 11May 25, 2023
    Epilepsy, familial focal, with variable foci 21May 25, 2023
    Epilepsy, familial focal, with variable foci 32May 25, 2023
    Epilepsy, idiopathic generalized, susceptibility to, 162Mar 14, 2024
    Epilepsy, idiopathic generalized, susceptibility to, 92May 25, 2023
    Epilepsy, progressive myoclonic, 1B1May 25, 2023
    Episodic ataxia type 213Mar 21, 2024
    Episodic ataxia type 51May 25, 2023
    Episodic ataxia, type 91Jul 11, 2023
    Epsilon-trimethyllysine hydroxylase deficiency1May 25, 2023
    Exudative vitreoretinopathy 11Mar 14, 2024
    FG syndrome1Jul 11, 2023
    Familial focal epilepsy with variable foci1May 25, 2023
    Familial hemiplegic migraine1Aug 18, 2022
    Familial hypocalciuric hypercalcemia 11May 25, 2023
    Familial infantile myoclonic epilepsy2Mar 14, 2024
    Familial medullary thyroid carcinoma2May 25, 2023
    Familial steroid-resistant nephrotic syndrome with sensorineural deafness1Sep 1, 2023
    Fanconi renotubular syndrome 11Mar 14, 2024
    Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3Nov 28, 2023
    GATAD2B-Related Neurodevelopmental Disorder1Sep 1, 2023
    GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder1May 25, 2023
    GRIN2B-related disorder2May 25, 2023
    Gaucher disease perinatal lethal1Mar 14, 2024
    Generalized epilepsy with febrile seizures plus, type 101May 25, 2023
    Generalized epilepsy-paroxysmal dyskinesia syndrome2Mar 14, 2024
    Gillespie syndrome1Jul 11, 2023
    Glutamate formiminotransferase deficiency1Mar 14, 2024
    Glutaric aciduria, type 11Nov 28, 2023
    Gorlin syndrome2Feb 21, 2023
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Jul 11, 2023
    Greig cephalopolysyndactyly syndrome1May 25, 2023
    HECW2-related disorder2Mar 14, 2024
    HNRNPU-related disorder3Apr 18, 2023
    Hearing loss, autosomal dominant 751May 25, 2023
    Hearing loss, autosomal dominant 821Jul 11, 2023
    Hearing loss, autosomal recessive 1121Mar 14, 2024
    Hereditary breast ovarian cancer syndrome1Dec 6, 2022
    Hereditary hemochromatosis2Mar 14, 2024
    Hereditary spastic paraplegia 304Mar 14, 2024
    Hereditary spastic paraplegia 3A1Mar 14, 2024
    Hereditary spastic paraplegia 47May 25, 2023
    Hereditary spastic paraplegia 451Nov 28, 2023
    Hereditary spastic paraplegia 491May 25, 2023
    Hereditary spastic paraplegia 511Mar 14, 2024
    Hereditary spastic paraplegia 631May 25, 2023
    Hereditary spastic paraplegia 72Nov 28, 2023
    Holoprosencephaly 51May 25, 2023
    Holoprosencephaly 71Feb 21, 2023
    Houge-Janssens syndrome 23Mar 14, 2024
    Hydrocephalus, nonsyndromic, autosomal recessive 11Feb 21, 2023
    Hypercholesterolemia, autosomal dominant, type B1Nov 28, 2023
    Hyperimmunoglobulin D with periodic fever1May 25, 2023
    Hypertrophic cardiomyopathy1Sep 1, 2023
    Hypertrophic cardiomyopathy 11Mar 3, 2022
    Hypertrophic cardiomyopathy 92Dec 7, 2021
    Hypochondrogenesis1Sep 1, 2023
    Hypomyelinating leukodystrophy 61Nov 28, 2023
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 23May 25, 2023
    Ichthyosis vulgaris2Mar 21, 2024
    Ichthyosis, hystrix-like, with hearing loss1Jul 11, 2023
    Idiopathic generalized epilepsy1May 25, 2023
    Intellectual developmental disorder 624Mar 21, 2024
    Intellectual developmental disorder with autism and macrocephaly1May 25, 2023
    Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1Mar 14, 2024
    Intellectual developmental disorder with hypertelorism and distinctive facies1May 25, 2023
    Intellectual developmental disorder with seizures and language delay1Jul 14, 2022
    Intellectual disability7May 25, 2023
    Intellectual disability, X-linked 1023Mar 14, 2024
    Intellectual disability, X-linked 1061May 25, 2023
    Intellectual disability, X-linked 501Jul 11, 2023
    Intellectual disability, X-linked 581Dec 7, 2021
    Intellectual disability, X-linked 972Dec 7, 2021
    Intellectual disability, X-linked 992Mar 14, 2024
    Intellectual disability, X-linked 99, syndromic, female-restricted3Mar 14, 2024
    Intellectual disability, autosomal dominant 11Apr 18, 2023
    Intellectual disability, autosomal dominant 132May 25, 2023
    Intellectual disability, autosomal dominant 224Mar 14, 2024
    Intellectual disability, autosomal dominant 241Dec 7, 2021
    Intellectual disability, autosomal dominant 293Mar 14, 2024
    Intellectual disability, autosomal dominant 301May 25, 2023
    Intellectual disability, autosomal dominant 397Mar 14, 2024
    Intellectual disability, autosomal dominant 403Nov 28, 2023
    Intellectual disability, autosomal dominant 411Sep 1, 2023
    Intellectual disability, autosomal dominant 431May 25, 2023
    Intellectual disability, autosomal dominant 472Nov 28, 2023
    Intellectual disability, autosomal dominant 58Mar 14, 2024
    Intellectual disability, autosomal dominant 526Nov 28, 2023
    Intellectual disability, autosomal dominant 61May 25, 2023
    Intellectual disability, autosomal dominant 92Mar 14, 2024
    Intellectual disability, autosomal recessive 11Dec 7, 2021
    Intellectual disability, autosomal recessive 131Apr 18, 2023
    Intellectual disability, autosomal recessive 183May 25, 2023
    Intellectual disability, autosomal recessive 31Dec 7, 2021
    Intellectual disability, autosomal recessive 451Sep 1, 2023
    Intellectual disability, autosomal recessive 471Mar 14, 2024
    Intellectual disability, autosomal recessive 531May 25, 2023
    Intellectual disability, autosomal recessive 583May 25, 2023
    Intellectual disability, autosomal recessive 652May 25, 2023
    Intellectual disability-epilepsy-extrapyramidal syndrome1Dec 7, 2021
    Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency8Mar 14, 2024
    Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome5May 25, 2023
    Intellectual disability-severe speech delay-mild dysmorphism syndrome2May 25, 2023
    Joubert syndrome 172Mar 14, 2024
    Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Sep 1, 2023
    KAT6A-related neurodevelopmental disorder with multiple anomalies2Mar 14, 2024
    KBG syndrome1May 25, 2023
    KCNQ2-related disorder1May 25, 2023
    KIF1A-related disorder1Apr 18, 2023
    Kabuki syndrome 11May 25, 2023
    Kleefstra syndrome 21May 25, 2023
    Kniest dysplasia1Sep 1, 2023
    Knobloch syndrome 11Sep 1, 2023
    Knuckle pads, deafness AND leukonychia syndrome1Jul 11, 2023
    Koolen-de Vries syndrome2May 25, 2023
    Landau-Kleffner syndrome2Mar 21, 2024
    Left ventricular noncompaction 11Mar 3, 2022
    Leigh Syndrome (mtDNA mutation)1Sep 1, 2023
    Lennox-Gastaut syndrome3May 25, 2023
    Lethal polymalformative syndrome, Boissel type1May 25, 2023
    Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Mar 14, 2024
    Leukoencephalopathy with vanishing white matter 51Sep 1, 2023
    Lewy body dementia1Jul 11, 2023
    Liang-Wang syndrome1Mar 14, 2024
    Lipoic acid synthetase deficiency2May 25, 2023
    Lissencephaly due to LIS1 mutation2Mar 14, 2024
    Long QT syndrome2May 25, 2023
    Long QT syndrome 31Mar 14, 2024
    Luscan-Lumish syndrome2Jul 11, 2023
    MED12-related intellectual disability syndrome1Jul 11, 2023
    MED13L-related disorder2Nov 28, 2023
    MYH7-related disorder1Mar 3, 2022
    MYH7-related skeletal myopathy1Mar 3, 2022
    Macrocephaly1May 25, 2023
    Macrocephaly-autism syndrome4Mar 14, 2024
    Malan overgrowth syndrome1Mar 14, 2024
    Marshall-Smith syndrome1Mar 14, 2024
    Megalencephalic leukoencephalopathy with subcortical cysts2Jul 12, 2022
    Menke-Hennekam syndrome 12Mar 14, 2024
    Metaphyseal anadysplasia 21Mar 14, 2024
    Mevalonic aciduria1May 25, 2023
    Microcephaly1Dec 6, 2022
    Microcephaly 1, primary, autosomal recessive1Mar 22, 2022
    Microcephaly 17, primary, autosomal recessive1May 25, 2023
    Microcephaly 18, primary, autosomal dominant1Mar 14, 2024
    Microcephaly 3, primary, autosomal recessive1Mar 22, 2022
    Microcephaly 4, primary, autosomal recessive3Mar 14, 2024
    Microcephaly 7, primary, autosomal recessive1May 25, 2023
    Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Mar 14, 2024
    Migraine, familial hemiplegic, 113Mar 21, 2024
    Migraine, familial hemiplegic, 22Mar 14, 2024
    Mitochondrial DNA deletion syndrome with progressive myopathy1Mar 14, 2024
    Mitochondrial DNA depletion syndrome 4b2Nov 28, 2023
    Mowat-Wilson syndrome1Jul 11, 2023
    Mullegama-Klein-Martinez syndrome1Sep 1, 2023
    Multiple endocrine neoplasia type 2A1Jul 14, 2022
    Multiple endocrine neoplasia type 2B1Jul 14, 2022
    Multiple endocrine neoplasia, type 21May 25, 2023
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21Mar 22, 2022
    Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21Mar 22, 2022
    Mutilating keratoderma1Jul 11, 2023
    Myoclonic-astatic epilepsy15Jul 11, 2023
    Myoclonic-atonic epilepsy2Mar 14, 2024
    Myoclonus, familial, 21Mar 14, 2024
    Myopathy, myofibrillar, 9, with early respiratory failure2Dec 7, 2021
    Myopathy, myosin storage, autosomal recessive1Mar 3, 2022
    Myosin storage myopathy1Mar 3, 2022
    NPRL3-related disorder1Mar 14, 2024
    Neurodevelopmental disorder4Sep 1, 2023
    Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures1Nov 28, 2023
    Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Mar 14, 2024
    Neurodevelopmental disorder with involuntary movements1Nov 28, 2023
    Neurodevelopmental disorder with language impairment and behavioral abnormalities1Mar 14, 2024
    Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Jul 11, 2023
    Neurodevelopmental, jaw, eye, and digital syndrome1Mar 1, 2022
    Neurofibromatosis, type 11May 25, 2023
    Neurofibromatosis-Noonan syndrome1May 25, 2023
    Neuronal ceroid lipofuscinosis 131Jul 11, 2023
    Neuronal ceroid lipofuscinosis 21Mar 14, 2024
    Neuronal ceroid lipofuscinosis 81Dec 7, 2021
    Neuropathy, hereditary sensory, type 1D1Mar 14, 2024
    Neuropathy, hereditary sensory, type 2C4Mar 14, 2024
    Nicolaides-Baraitser syndrome1May 25, 2023
    Niemann-Pick disease, type A1Dec 7, 2021
    Non-ketotic hyperglycinemia3Mar 14, 2024
    Non-syndromic X-linked intellectual disability1May 6, 2022
    Non-syndromic intellectual disability4May 25, 2023
    Noonan syndrome 11May 25, 2023
    OPHN1-related disorder1Mar 14, 2024
    Odonto-onycho-dermal dysplasia1May 25, 2023
    Osteogenesis imperfecta with normal sclerae, dominant form2Mar 14, 2024
    Osteogenesis imperfecta, perinatal lethal2Mar 14, 2024
    Osteopathia striata with cranial sclerosis1Mar 14, 2024
    Ovarioleukodystrophy1Aug 18, 2022
    PIK3CA-related overgrowth1Mar 14, 2024
    PMM2-congenital disorder of glycosylation1May 25, 2023
    PMP22-RAI1 contiguous gene duplication syndrome1May 25, 2023
    POLG-related disorder1May 25, 2023
    PPP2R1A-related disorder1Mar 14, 2024
    PTCH1-related disorder1May 6, 2022
    PTEN hamartoma tumor syndrome7Mar 14, 2024
    Palmoplantar keratoderma-deafness syndrome1Jul 11, 2023
    Peroxisome biogenesis disorder 10A (Zellweger)1Sep 1, 2023
    Pierpont syndrome1Sep 1, 2023
    Pituitary hormone deficiency, combined, 21Jul 11, 2023
    Platyspondylic dysplasia, Torrance type1Sep 1, 2023
    Pontocerebellar hypoplasia type 91May 25, 2023
    Pontocerebellar hypoplasia, type 112May 25, 2023
    Porokeratosis 3, disseminated superficial actinic type1May 25, 2023
    Prader-Willi syndrome1May 25, 2023
    Prader-Willi-like syndrome2Nov 28, 2023
    Primary ciliary dyskinesia 151Jul 11, 2023
    Primary ciliary dyskinesia 221Mar 14, 2024
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Nov 28, 2023
    Progressive sclerosing poliodystrophy2Nov 28, 2023
    Proteus-like syndrome1Aug 31, 2023
    Pyridoxine-dependent epilepsy1Jul 11, 2023
    Renpenning syndrome1May 25, 2023
    Rett syndrome1Mar 14, 2024
    Rett syndrome, congenital variant3Mar 14, 2024
    Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1Jul 14, 2022
    Rubinstein-Taybi syndrome due to CREBBP mutations3Mar 21, 2024
    Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Dec 7, 2021
    SATB2 associated disorder2Nov 28, 2023
    SCN2A-related disorder1Jul 11, 2023
    SCN2A-related generalized epilepsy with febrile seizures plus4Sep 1, 2023
    SET-related disorder1Sep 1, 2023
    SETD5-related disorder1Dec 6, 2022
    SHANK3-related disorder1Sep 1, 2023
    SIN3A-related intellectual disability syndrome due to a point mutation1Nov 28, 2023
    SLC6A1-related disorder3Sep 1, 2023
    SLC6A1-related neurodevelopmental disorder1Dec 6, 2022
    SPATA5-related neurodevelopmental disorder2Mar 14, 2024
    SUDDEN INFANT DEATH SYNDROME1Mar 14, 2024
    SYNE4-related hearing loss1Dec 6, 2022
    SYNGAP1-related developmental and epileptic encephalopathy1Mar 14, 2024
    SYNGAP1-related disorder3Mar 14, 2024
    SchC6pf-Schulz-Passarge syndrome1May 25, 2023
    Schaaf-Yang syndrome2Nov 28, 2023
    Schinzel-Giedion syndrome2Mar 14, 2024
    Schizophrenia1May 25, 2023
    Seckel syndrome 11May 25, 2023
    Seizures, benign familial infantile, 35Sep 1, 2023
    Seizures, benign familial infantile, 51Mar 14, 2024
    Seizures, benign familial neonatal, 11May 6, 2022
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Nov 28, 2023
    Severe X-linked mitochondrial encephalomyopathy1Sep 1, 2023
    Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3Mar 14, 2024
    Shashi-Pena syndrome1Aug 18, 2022
    Sick sinus syndrome 11Mar 14, 2024
    Sifrim-Hitz-Weiss syndrome1Dec 6, 2022
    Smith-Magenis syndrome1May 25, 2023
    Sotos syndrome2Nov 28, 2023
    Spastic paraplegia, intellectual disability, nystagmus, and obesity1Feb 21, 2023
    Spinal muscular atrophy with lower extremity predominance1May 25, 2023
    Spinocerebellar ataxia type 15/161Jul 11, 2023
    Spinocerebellar ataxia type 401Feb 21, 2023
    Spinocerebellar ataxia type 611Mar 14, 2024
    Spondyloepimetaphyseal dysplasia, Strudwick type1Sep 1, 2023
    Spondyloepiphyseal dysplasia congenita1Sep 1, 2023
    Spondyloepiphyseal dysplasia with metatarsal shortening1Sep 1, 2023
    Sterol carrier protein 2 deficiency1Dec 7, 2021
    Stickler syndrome type 11Sep 1, 2023
    Symmetrical dyschromatosis of extremities1May 25, 2023
    Syndromic X-linked intellectual disability Claes-Jensen type7Nov 28, 2023
    Syndromic X-linked intellectual disability Raymond type1Feb 21, 2023
    Syndromic X-linked intellectual disability Shashi type1Aug 18, 2022
    Syndromic intellectual disability2May 25, 2023
    TARP syndrome1May 25, 2023
    TRIO-related disorder1Mar 14, 2024
    TRIOBP-related hearing loss1Dec 6, 2022
    TUBB3-related disorder1Dec 7, 2021
    Tatton-Brown-Rahman overgrowth syndrome8Nov 28, 2023
    Telangiectasia, hereditary hemorrhagic, type 11Mar 14, 2024
    Telangiectasia, hereditary hemorrhagic, type 21Feb 21, 2023
    Tetralogy of Fallot2May 25, 2023
    Thrombocytopenia 11Mar 14, 2024
    Tibial muscular dystrophy2Dec 7, 2021
    Tooth agenesis, selective, 41May 25, 2023
    Torsion dystonia 41Nov 28, 2023
    Unverricht-Lundborg syndrome1Jul 12, 2022
    Vanishing white matter disease1Aug 18, 2022
    Velocardiofacial syndrome3May 25, 2023
    Ventriculomegaly and arthrogryposis1Feb 21, 2023
    WDFY3-related disorder1Mar 14, 2024
    West syndrome3May 25, 2023
    Wiedemann-Steiner syndrome5Jul 11, 2023
    Wiskott-Aldrich syndrome1Mar 14, 2024
    X-linked complex neurodevelopmental disorder1May 6, 2022
    X-linked intellectual disability with marfanoid habitus1Jul 11, 2023
    X-linked intellectual disability, Cantagrel type1May 25, 2023
    X-linked intellectual disability-cerebellar hypoplasia syndrome2Sep 1, 2023
    X-linked severe congenital neutropenia1Mar 14, 2024
    ZBTB18-related disorder3May 25, 2023
    ZTTK syndrome1May 25, 2023
    beta Thalassemia1May 25, 2023
    not provided105Mar 21, 2024