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GeneReviews (GeneReviews), GeneReviews

General information

GeneReviews, GeneReviews
GeneReviews
Seattle
Washington
United States

Organization ID: 500062

Personnel

  • Director: Margaret Adam

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 6330

    Gene

    GeneSubmissionsLast Updated
    ABCB74Apr 4, 2014
    ABCC814Jan 8, 2013
    ABCD11Dec 11, 2019
    ACADS3Aug 13, 2014
    ACADVL4May 26, 2021
    ACD2Jun 16, 2016
    ACTA17Apr 30, 2013
    ACTB3Apr 4, 2022
    ACTG11Apr 4, 2022
    ACTG29Jun 29, 2021
    ADA27Sep 12, 2019
    ADAMTSL25Jan 8, 2013
    ADAR2Mar 13, 2014
    ADCY55Dec 17, 2015
    ADGRV12May 19, 2016
    ADNP5Sep 3, 2021
    AFG3L212Nov 29, 2012
    AGL10Jan 28, 2022
    AGPAT217Dec 8, 2016
    AGRN9Jul 14, 2016
    AGXT13Jul 24, 2014
    AHDC13Dec 10, 2021
    AIP67Mar 26, 2013
    AIPL17Apr 30, 2013
    AKT11Nov 29, 2012
    AKT33Aug 8, 2016
    ALAS23Mar 26, 2013
    ALDH7A13Aug 4, 2021
    ALDOB9Dec 2, 2021
    ALK8Apr 30, 2013
    ALPL8Feb 4, 2016
    ALS217Apr 30, 2013
    ALX41Jan 8, 2013
    AMT3Apr 30, 2013
    ANKRD111Dec 1, 2017
    ANO57Jan 8, 2013
    AOPEP2Jun 8, 2021
    APBB12Jun 18, 2015
    APC4May 25, 2021
    APOB3Dec 8, 2016
    APOE1Apr 7, 2014
    APP4Mar 26, 2013
    APRT6Jun 18, 2015
    AR6Jan 26, 2017
    ARID1B2Jul 17, 2019
    ARMS23Jan 8, 2013
    ARSA15Jun 22, 2017
    ARSL6Jan 8, 2013
    ASAH14Jan 31, 2018
    ASL3Mar 26, 2013
    ASPM101Mar 26, 2013
    ASS112Sep 1, 2016
    ATF62Nov 6, 2015
    ATL112Apr 30, 2013
    ATM21Oct 27, 2016
    ATN13Jan 8, 2013
    ATP1A25Jul 8, 2021
    ATP1A351Nov 6, 2014
    ATP6V0A211Apr 30, 2013
    ATP7A2Sep 22, 2021
    ATP7B3Jul 28, 2016
    ATP8B16Oct 27, 2021
    ATRIP17Mar 13, 2014
    ATRIP-TREX117Mar 13, 2014
    ATRX1Nov 6, 2014
    ATXN106Jan 8, 2013
    ATXN22Aug 22, 2019
    ATXN33Sep 28, 2015
    B3GLCT3Jan 8, 2013
    BAAT2Jan 8, 2013
    BAG31Jan 8, 2013
    BBIP11Feb 20, 2014
    BBS13Apr 30, 2013
    BBS416Apr 30, 2013
    BCKDHA1Apr 30, 2013
    BCKDHB3Apr 30, 2013
    BCOR1Oct 2, 2014
    BLM2Aug 22, 2019
    BRAF14Mar 3, 2016
    BRCA15Feb 17, 2022
    BRCA24Feb 17, 2022
    BSCL215Dec 8, 2016
    BTD5Jan 8, 2013
    C10orf1051May 19, 2016
    C11orf6510Oct 27, 2016
    C17orf1072Jul 14, 2016
    C19orf123May 29, 2014
    C2orf883Apr 30, 2013
    C9orf722Nov 7, 2014
    CA5A4Aug 27, 2021
    CACNA1A8Jul 8, 2021
    CACNA1C8Dec 16, 2021
    CACNA1F1Mar 26, 2013
    CACNA1S7Aug 7, 2014
    CACNB21Sep 9, 2014
    CALM12Mar 6, 2014
    CAPN313Nov 16, 2021
    CARD141Oct 17, 2019
    CASP104Dec 13, 2021
    CASQ24Oct 13, 2016
    CATSPER12Jun 3, 2021
    CBS3Mar 15, 2022
    CCDC1032Sep 22, 2015
    CCDC1071Nov 29, 2012
    CCDC222Feb 7, 2020
    CCDC394Apr 30, 2013
    CCDC402Apr 30, 2013
    CCDC651Sep 22, 2015
    CCM22Aug 4, 2016
    CCND27Aug 8, 2016
    CCNO7Sep 22, 2015
    CD40LG2May 12, 2020
    CDAN13Aug 4, 2021
    CDC738Apr 30, 2013
    CDCA7L1Apr 30, 2013
    CDH235May 19, 2016
    CDH23-AS11May 19, 2016
    CDIN12Feb 20, 2014
    CDK135Jul 1, 2020
    CDK5RAP218Jan 8, 2013
    CDKN1C8Aug 6, 2021
    CEBPA9Nov 24, 2021
    CENPJ11Jan 8, 2013
    CEP2903Feb 10, 2016
    CFAP2983Sep 22, 2015
    CFAP298-TCP10L3Sep 22, 2015
    CFH3Oct 19, 2021
    CFI1Apr 30, 2013
    CFL21Mar 26, 2013
    CFTR36May 21, 2021
    CFTR-AS19May 21, 2021
    CHAT1Jul 14, 2016
    CHCHD106Oct 20, 2021
    CHM5Dec 2, 2021
    CHMP2B7Apr 30, 2013
    CHPT13Apr 30, 2013
    CHRNA21Jan 8, 2013
    CHRNA45Mar 26, 2013
    CHRNB27Mar 26, 2013
    CHRNE4Jul 14, 2016
    CIB22May 19, 2016
    CLCN114Nov 16, 2021
    CLCN239Nov 9, 2015
    CLCN525Sep 25, 2014
    CLCN75Mar 3, 2022
    CLN32Apr 30, 2013
    CLN52Apr 30, 2013
    CLN63Apr 30, 2013
    CLN81Apr 30, 2013
    CLPB20Sep 14, 2016
    CNGB32Apr 30, 2013
    COG42Apr 17, 2020
    COL1A11Nov 29, 2012
    COL2A15May 27, 2021
    COL4A111Jan 8, 2013
    COL4A53Mar 26, 2013
    COL5A12Jan 8, 2013
    COL6A13Mar 12, 2021
    COL6A22Mar 12, 2021
    COL6A32Mar 12, 2021
    COL9A11May 27, 2021
    COL9A21May 27, 2021
    COMP25Apr 5, 2022
    COQ29Jun 7, 2016
    COQ46Jun 7, 2016
    COQ67Jun 7, 2016
    COQ8A19Jun 7, 2016
    COQ8B11Jun 7, 2016
    COQ92Jun 7, 2016
    CP43Nov 16, 2015
    CPLANE18Aug 18, 2021
    CPT1A27Mar 29, 2022
    CPT223May 27, 2021
    CRB11Apr 30, 2013
    CRH3Feb 19, 2015
    CRLF16Aug 20, 2021
    CRX1Apr 30, 2013
    CRYAB3Jan 8, 2013
    CSF1R43Dec 18, 2014
    CSPP11Aug 18, 2021
    CSTB14Nov 25, 2014
    CTDP11Jan 8, 2013
    CTNNA32Oct 22, 2021
    CTNS16Oct 6, 2016
    CTNS-AS110Oct 6, 2016
    CTRC5May 29, 2014
    CYBA1Feb 11, 2016
    CYBB2Feb 11, 2016
    CYP1B12Mar 16, 2022
    CYP21A217Apr 30, 2013
    CYP27A155Mar 29, 2022
    CYP4V233Mar 26, 2013
    DARS23Dec 8, 2021
    DBH12Mar 14, 2022
    DBH-AS11Mar 14, 2022
    DCAF171Jul 16, 2021
    DCC13Jan 6, 2015
    DCN3Apr 30, 2013
    DCTN11Aug 6, 2021
    DDX111Jul 25, 2019
    DDX3X11Feb 22, 2022
    DDX4110Nov 1, 2021
    DEPDC573Apr 13, 2016
    DES1Apr 30, 2013
    DHCR713Nov 14, 2019
    DKC138Jan 8, 2013
    DLD1Apr 7, 2014
    DLG11May 19, 2016
    DLL34Apr 30, 2013
    DM1-AS2Apr 30, 2013
    DMPK1Apr 30, 2013
    DNAAF15Sep 22, 2015
    DNAAF116Sep 22, 2015
    DNAAF23Sep 22, 2015
    DNAAF33Sep 17, 2015
    DNAAF51Apr 30, 2013
    DNAH11Sep 22, 2015
    DNAH113Apr 30, 2013
    DNAH53Sep 22, 2015
    DNAH81Sep 22, 2015
    DNAI13Sep 17, 2015
    DNAI23Sep 17, 2015
    DNAJC69May 14, 2021
    DNAL12Sep 22, 2015
    DOK71Jul 14, 2016
    DRC12Sep 22, 2015
    DUSP294Feb 7, 2020
    DVL18Jul 30, 2015
    DVL21May 26, 2021
    DYRK1A1Dec 24, 2015
    DYSF6Oct 20, 2021
    EBF38Jun 17, 2021
    ECHS12Sep 12, 2019
    ECM17Jul 25, 2021
    EDAR2Oct 13, 2021
    EDARADD3Oct 13, 2021
    EFEMP211Jan 8, 2013
    EGR28Mar 26, 2013
    EHMT116May 7, 2015
    EIF2B21Oct 17, 2019
    EIF2B32Oct 17, 2019
    EIF2B57Oct 17, 2019
    ELOVL53Sep 12, 2019
    ELP12Nov 10, 2021
    ENPP14Aug 22, 2014
    ENTPD57Jun 7, 2016
    EPB426May 29, 2014
    EPCAM1Jan 7, 2022
    EPM2A3Jan 22, 2015
    EPM2A-DT2Jan 22, 2015
    EPOR5Nov 14, 2016
    ERCC12Sep 26, 2016
    ERCC22Sep 26, 2016
    ESCO227Apr 2, 2020
    ETHE124Apr 5, 2017
    ETV61Jan 13, 2021
    EXOSC33Apr 28, 2014
    EZH23Aug 6, 2015
    F25Jan 12, 2022
    F82Mar 26, 2013
    F92Jun 5, 2014
    FAH11Oct 21, 2021
    FAM111B9Oct 25, 2021
    FAM126A4Jan 27, 2021
    FANCA4Jun 8, 2021
    FANCC6Jun 8, 2021
    FANCG4Jun 8, 2021
    FANCI2Jan 8, 2013
    FARS22Jan 24, 2019
    FASLG7Dec 13, 2021
    FBLN56Jan 8, 2013
    FBN22Dec 11, 2019
    FBXL31Apr 30, 2013
    FBXO451May 19, 2016
    FDFT11Apr 16, 2020
    FECH1Nov 29, 2012
    FERMT120Jan 28, 2022
    FGD46Nov 29, 2012
    FGF232Jun 26, 2017
    FGF312Nov 29, 2012
    FGFR19Feb 25, 2022
    FGFR24Jul 25, 2019
    FGFR323Mar 26, 2022
    FH5Aug 20, 2015
    FIG41Nov 29, 2012
    FKBP143Jul 25, 2019
    FKBP14-AS12Jul 25, 2019
    FLCN3Aug 13, 2014
    FLNA11Oct 13, 2021
    FLNB29Mar 26, 2013
    FLNB-AS11Mar 26, 2013
    FMO36Nov 3, 2015
    FN13May 29, 2020
    FOXL212Feb 5, 2015
    FOXP233May 25, 2021
    G6PC17Aug 25, 2016
    G6PC36Jan 18, 2015
    GAA6Jul 26, 2021
    GALE7Nov 10, 2021
    GALNS10Jul 28, 2021
    GALT14Apr 13, 2021
    GAMT6Dec 10, 2015
    GARS113Jul 23, 2021
    GATA112Sep 21, 2021
    GATM3Dec 10, 2015
    GBA19Apr 30, 2013
    GBE113Apr 30, 2013
    GCDH11Oct 17, 2019
    GCK6Apr 30, 2013
    GDAP19Jul 12, 2021
    GFAP110Mar 25, 2022
    GH-LCR18Jul 27, 2021
    GJB114Jan 8, 2013
    GJB231Dec 22, 2016
    GJB63Dec 22, 2016
    GJC22Jun 6, 2017
    GLA3Jan 5, 2017
    GLB16Sep 1, 2021
    GLDC3Apr 30, 2013
    GLI31Nov 29, 2012
    GLIS22Feb 10, 2016
    GLRA122Apr 30, 2013
    GLRB2Apr 30, 2013
    GNAL3Jul 13, 2018
    GNAS12Jan 25, 2017
    GNAT21Apr 30, 2013
    GNB19Jan 15, 2021
    GNB56Nov 2, 2021
    GNE13Jun 10, 2020
    GNPTAB126Apr 30, 2013
    GNPTG17Mar 26, 2013
    GPD1L2Sep 9, 2014
    GPHN2Apr 30, 2013
    GPR1012Jun 16, 2017
    GRHPR4Mar 26, 2013
    GRIN2A5Mar 16, 2016
    GRN3Apr 16, 2020
    GUCY2D1Apr 30, 2013
    H1-417Jan 12, 2021
    HBA16Dec 29, 2016
    HBA213Dec 29, 2016
    HBB47Apr 6, 2022
    HBZ1Dec 29, 2016
    HCCS3Jan 8, 2013
    HEPACAM3Apr 30, 2013
    HES71Mar 26, 2013
    HFE5Sep 22, 2015
    HFE-AS12Sep 22, 2015
    HGD11Aug 13, 2021
    HGSNAT4Oct 17, 2019
    HIGD2B1Apr 30, 2013
    HK11Aug 20, 2015
    HNRNPK3Apr 16, 2019
    HNRNPUL2-BSCL215Dec 8, 2016
    HOGA12Jul 31, 2015
    HPDL1Oct 22, 2021
    HPS15Apr 7, 2022
    HPS32Nov 18, 2021
    HPS41Nov 18, 2021
    HPS61Nov 18, 2021
    HPSE22Apr 30, 2013
    HTRA112Sep 23, 2014
    HTT4Jan 8, 2013
    HYDIN2Sep 17, 2015
    IDS4Dec 4, 2019
    IDUA18Nov 19, 2021
    IFT1226Apr 30, 2013
    IFT431Apr 30, 2013
    IL2RG2Aug 9, 2021
    INS18Aug 7, 2017
    INS-IGF214Aug 7, 2017
    INSR2Mar 6, 2017
    INVS4Feb 10, 2016
    IQCB11Feb 10, 2016
    IRF66Dec 2, 2021
    ISCA12Nov 7, 2019
    ISCA23Nov 29, 2017
    ISCU2Mar 3, 2016
    ITGB41Jan 21, 2022
    ITPR11Jun 13, 2014
    JAG15Dec 18, 2019
    JUP3Oct 22, 2021
    KANSL16Jan 8, 2013
    KAT6B6Feb 7, 2020
    KCNA14Jun 25, 2015
    KCNJ1127Jan 8, 2013
    KCNJ189Aug 7, 2014
    KCNJ26Aug 6, 2015
    KCNJ52Aug 6, 2015
    KCNK92Dec 12, 2016
    KCNQ13Mar 17, 2022
    KCNQ2177Mar 31, 2016
    KCNQ323Jan 20, 2022
    KCNQ48May 10, 2018
    KCNT14Feb 19, 2015
    KIAA05861Aug 18, 2021
    KIF1A2Apr 30, 2013
    KL1Jun 26, 2017
    KMT2B2Feb 2, 2018
    KRAS5Feb 25, 2022
    KRIT12Aug 4, 2016
    KRT144Mar 26, 2013
    KRT171Jul 25, 2014
    KRT53Apr 30, 2013
    KRT6A5Jul 25, 2014
    LAMA25Nov 29, 2012
    LAMA32Apr 30, 2013
    LAMB34Mar 26, 2013
    LAMC21Mar 26, 2013
    LCA54Apr 30, 2013
    LDB31Mar 26, 2013
    LDLR2Dec 8, 2016
    LFNG1Jan 8, 2013
    LGI17Aug 27, 2015
    LIPA2Sep 1, 2016
    LITAF8Dec 18, 2014
    LIX1L-AS12Dec 8, 2016
    LMNA27Jan 8, 2015
    LOC10028794410Jul 22, 2021
    LOC1014482021Jan 8, 2013
    LOC1060293121Nov 29, 2012
    LOC1060501022Dec 4, 2019
    LOC10609906236Apr 6, 2022
    LOC10662798117Apr 30, 2013
    LOC10678080016Apr 30, 2013
    LOC1068046128Dec 29, 2016
    LOC1068046132Dec 29, 2016
    LOC1070753174Apr 30, 2013
    LOC10713351047Apr 6, 2022
    LOC1071812876Jan 8, 2013
    LOC1086604044Jan 8, 2013
    LOC1086639872Sep 28, 2015
    LOC1090295331Nov 25, 2014
    LOC1091159644Nov 29, 2012
    LOC1094614771Apr 30, 2013
    LOC1094614794Jan 8, 2013
    LOC1094614843Jan 8, 2013
    LOC1095047253Jan 26, 2017
    LOC1095047272Apr 2, 2014
    LOC1095047282Nov 7, 2014
    LOC11000631912Apr 6, 2022
    LOC1100085801Apr 30, 2013
    LOC1101211211Oct 20, 2021
    LOC1101214861Mar 26, 2013
    LOC1106314171Apr 30, 2013
    LOC1108062634Jan 8, 2013
    LOC1108063069Mar 26, 2013
    LOC1116744757May 21, 2021
    LOC1125434701Mar 26, 2013
    LOC1136338771May 21, 2021
    LOC1136871751Jan 8, 2013
    LOC1170387953Nov 22, 2016
    LOC1239562101Nov 2, 2021
    LPIN26Mar 26, 2013
    LRP212Jan 8, 2013
    LRRK2142Dec 11, 2014
    LYST41Jan 15, 2015
    LZTFL12Feb 20, 2014
    MAGEL22Dec 13, 2021
    MAN2B15Jan 8, 2013
    MAP2K15Mar 3, 2016
    MAP2K23Mar 3, 2016
    MATN316Apr 5, 2022
    MBD54Jul 21, 2016
    MCEE3Jan 7, 2016
    MCIDAS3Sep 22, 2015
    MCOLN110Jan 4, 2022
    MCPH17Mar 26, 2013
    MCPH1-AS12Jan 8, 2013
    MEA17Jul 15, 2020
    MECP28Oct 17, 2019
    MED1251Aug 26, 2021
    MEFV16Dec 15, 2016
    MESP210Apr 30, 2013
    MFSD82Apr 30, 2013
    MHRT4Jan 12, 2022
    MKKS6Apr 30, 2013
    MKS11Aug 18, 2021
    MLC19Mar 26, 2013
    MLH123Jan 7, 2022
    MMAA15Dec 1, 2016
    MMAB11Jan 7, 2016
    MMADHC7Dec 1, 2016
    MMUT31Dec 1, 2016
    MN13Jan 14, 2021
    MPV1720Apr 30, 2013
    MPZ26Mar 26, 2015
    MSH212Jan 7, 2022
    MSH68Jan 7, 2022
    MSTN3Apr 30, 2013
    MSX21Jan 8, 2013
    MT-ATP611May 12, 2021
    MT-CO15Jun 14, 2018
    MT-CO33Dec 9, 2021
    MT-CYB2May 12, 2021
    MT-ND115May 12, 2021
    MT-ND23May 12, 2021
    MT-ND35May 12, 2021
    MT-ND45May 12, 2021
    MT-ND4L1May 12, 2021
    MT-ND58May 12, 2021
    MT-ND613May 12, 2021
    MT-RNR14Jun 14, 2018
    MT-TE1May 12, 2021
    MT-TF1Jan 29, 2015
    MT-TK6Jan 28, 2021
    MT-TL11Sep 8, 2014
    MT-TS111Jun 14, 2018
    MT-TV2Sep 8, 2014
    MT-TW3Dec 9, 2021
    MTMR21Nov 29, 2012
    MTTP5Jul 27, 2018
    MUC11Oct 28, 2021
    MUS812Jan 8, 2013
    MUTYH11Oct 22, 2021
    MYCN6Nov 27, 2019
    MYCNOS1Nov 27, 2019
    MYH78Jan 12, 2022
    MYH914Dec 9, 2021
    MYO7A10May 19, 2016
    MYOT1Jan 8, 2013
    NAA101Oct 2, 2014
    NAGLU8Oct 17, 2019
    NBN13Feb 2, 2017
    NCF11Nov 29, 2012
    NCF42Feb 11, 2016
    NCF4-AS12Feb 11, 2016
    NDRG11Nov 29, 2012
    NDUFS71Jan 8, 2013
    NEB1Apr 30, 2013
    NEFL7Dec 18, 2014
    NF16Jan 27, 2022
    NGLY13Aug 25, 2017
    NHLRC15Jan 22, 2015
    NHP23Jan 8, 2013
    NIPAL42Oct 15, 2021
    NKX6-28Aug 15, 2018
    NME82Apr 30, 2013
    NMNAT11Apr 30, 2013
    NOP101Jan 8, 2013
    NOP562Apr 2, 2014
    NOTCH39Aug 22, 2019
    NPC113Mar 26, 2013
    NPC210Jan 8, 2013
    NPHP12Feb 10, 2016
    NPHP32Feb 10, 2016
    NPHP3-ACAD112Feb 10, 2016
    NPHP42Feb 10, 2016
    NRAS4Feb 25, 2016
    NSDHL7Apr 30, 2013
    NSUN61Sep 9, 2014
    NTRK18Apr 30, 2013
    OCRL12Sep 25, 2014
    ODAD11Sep 22, 2015
    ODAD22Sep 22, 2015
    ODAD32Sep 22, 2015
    OFD12Aug 4, 2016
    OPA110Nov 13, 2015
    OPA1-AS11Apr 30, 2013
    OPA36Jan 8, 2013
    OTOF95Jul 30, 2015
    OTOP21May 19, 2016
    PAFAH1B12Dec 11, 2014
    PAH7Oct 20, 2016
    PAK21May 19, 2016
    PANK25Nov 15, 2021
    PAX23Nov 20, 2014
    PC16Apr 30, 2013
    PCCA6Jan 8, 2013
    PCCB15Jan 8, 2013
    PCDH156May 19, 2016
    PCNT2Feb 8, 2022
    PCSK95Dec 8, 2016
    PDE6C1Apr 30, 2013
    PDE6H1Apr 30, 2013
    PDGFRB2Apr 30, 2013
    PDSS13Jun 7, 2016
    PDSS22Jun 7, 2016
    PDX14Jul 28, 2016
    PEPD4Apr 6, 2015
    PEX12Jan 27, 2021
    PEX101Jan 27, 2021
    PEX61Jan 27, 2021
    PEX710Jan 8, 2013
    PIK3CA5Apr 30, 2013
    PIK3R17Apr 7, 2014
    PIK3R21Aug 8, 2016
    PKD11Jun 11, 2015
    PKD2L2-DT1Jan 8, 2013
    PLA2G61Jun 7, 2021
    PLEC1Apr 30, 2013
    PLEKHG21Apr 30, 2013
    PLP13Dec 26, 2019
    PLUT1Apr 30, 2013
    PMM212Nov 6, 2015
    PMP2212Feb 25, 2022
    PMS26Jan 7, 2022
    PNKD3Oct 17, 2019
    PNPLA11Oct 15, 2021
    PNPLA66Aug 11, 2021
    POGZ4Oct 25, 2021
    POLG19Apr 30, 2013
    POLH6Sep 26, 2016
    POLR1C20Jul 22, 2021
    POLR3A62Jul 22, 2021
    POLR3B52Jul 22, 2021
    POR2Nov 4, 2021
    POT13Jan 14, 2021
    PPOX1Jan 2, 2020
    PPP2R5D7Jul 15, 2020
    PPT12Apr 30, 2013
    PRDM161May 19, 2016
    PRF14Oct 6, 2021
    PRICKLE13Mar 26, 2013
    PRKAR1A29Jan 29, 2015
    PRKCG31May 17, 2020
    PRKN4Mar 26, 2013
    PRNP7Feb 22, 2021
    PROP15Apr 18, 2022
    PRPS16Mar 26, 2013
    PRRT25Nov 6, 2017
    PRSS15Jul 9, 2020
    PRX5Aug 20, 2015
    PSEN114Jan 8, 2013
    PSEN22Mar 26, 2013
    PTEN3Dec 16, 2021
    PTPN1112Feb 25, 2016
    PURA5Jan 27, 2017
    PYGL19Mar 26, 2013
    PYGM13Jul 9, 2014
    RAB184Oct 31, 2017
    RAB3GAP110Oct 31, 2017
    RAB3GAP23Oct 31, 2017
    RAB9B3Dec 26, 2019
    RAD212Jan 28, 2016
    RAD514Jan 6, 2015
    RAF14Jan 8, 2013
    RANBP25Oct 13, 2021
    RAPSN3Jul 14, 2016
    RBM8A4Dec 8, 2016
    RD31Apr 30, 2013
    RDH121Apr 30, 2013
    RELN7Aug 27, 2015
    RFC15Jan 14, 2021
    RFC31Mar 2, 2016
    RMND5B3Jan 8, 2013
    RMRP1Nov 29, 2012
    RNASEH2A11Nov 22, 2016
    RNF1681May 19, 2016
    RNF172Jan 8, 2013
    RPGRIP12Apr 30, 2013
    RPGRIP1L3Aug 18, 2021
    RPL36A-HNRNPH23Jan 5, 2017
    RPS241Jul 22, 2021
    RPS71Apr 30, 2013
    RRM2B34Aug 23, 2021
    RSPH16Sep 22, 2015
    RSPH31Sep 22, 2015
    RSPH4A5Sep 22, 2015
    RSPH91Sep 17, 2015
    RTEL11Jun 16, 2016
    RTEL1-TNFRSF6B1Jun 16, 2016
    RUNX27Feb 3, 2022
    RYR166Apr 30, 2013
    RYR24Mar 26, 2013
    SACS4Feb 8, 2021
    SALL12Jan 14, 2016
    SALL45Apr 8, 2022
    SAMD94Jan 8, 2021
    SAMD9L4Mar 1, 2017
    SAMHD121Mar 13, 2014
    SAR1B2Mar 25, 2022
    SARM14Jul 14, 2021
    SATB213Jun 2, 2017
    SBDS13Jan 8, 2013
    SCARB220Mar 5, 2015
    SCN11A2Nov 9, 2017
    SCN1A1Jul 8, 2021
    SCN1A-AS110Mar 23, 2020
    SCN3A1Jun 8, 2021
    SCN3B1Sep 9, 2014
    SCN4A32Jul 27, 2021
    SCN5A4Sep 9, 2014
    SCN8A37Apr 28, 2022
    SCN9A16Mar 23, 2020
    SCO229Jan 14, 2016
    SDHA3Nov 6, 2014
    SDHAF21Nov 29, 2012
    SDHD6Jan 8, 2013
    SELENON1Apr 30, 2013
    SEPTIN93Jan 8, 2013
    SERPINA114Nov 12, 2015
    SERPINE14Apr 4, 2017
    SETD22Jan 28, 2022
    SGCB1Nov 16, 2021
    SGPL11Jan 13, 2021
    SGSH6Oct 17, 2019
    SH3TC214Apr 12, 2021
    SHANK31Dec 11, 2019
    SHH32Apr 30, 2013
    SIX16Apr 30, 2013
    SIX37Apr 30, 2013
    SIX54Jan 8, 2013
    SLC12A511Aug 2, 2018
    SLC12A66Jun 13, 2014
    SLC16A28Apr 30, 2013
    SLC17A52Mar 9, 2020
    SLC20A22Apr 30, 2013
    SLC25A1316Mar 26, 2013
    SLC25A158Jun 17, 2020
    SLC25A192Mar 16, 2022
    SLC26A15Nov 19, 2021
    SLC26A210Apr 30, 2013
    SLC26A48Nov 2, 2021
    SLC26A5-AS12Aug 27, 2015
    SLC27A41Oct 15, 2021
    SLC2A1020Nov 13, 2014
    SLC30A1014Feb 9, 2017
    SLC33A16Aug 21, 2019
    SLC37A43Aug 25, 2016
    SLC39A148Mar 13, 2017
    SLC40A12Sep 22, 2015
    SLC45A23Jan 20, 2022
    SLC46A18Jul 14, 2021
    SLC52A11Sep 29, 2015
    SLC52A211Sep 29, 2015
    SLC52A326Nov 3, 2021
    SLC6A510Apr 30, 2013
    SLC6A84Apr 30, 2013
    SLC6A93Sep 19, 2017
    SLC7A74Dec 11, 2019
    SLITRK12Jan 8, 2013
    SLITRK63Nov 24, 2014
    SMAD47Jan 31, 2017
    SMARCB12Aug 24, 2021
    SMARCC21Aug 24, 2021
    SMN21Jan 22, 2016
    SMPD111Jun 18, 2015
    SMS6Mar 5, 2020
    SOST11Mar 31, 2022
    SOX92Jan 8, 2013
    SP1106Jan 12, 2017
    SP1406Jan 12, 2017
    SPAG13Apr 13, 2016
    SPAST2Aug 26, 2019
    SPATA74Apr 30, 2013
    SPG1197Mar 26, 2013
    SPINK17May 29, 2014
    SPR1Apr 13, 2015
    SPRED14Mar 26, 2013
    SPTLC14Mar 26, 2013
    SRCAP2Jan 8, 2013
    STAC35Sep 12, 2019
    STAT35Apr 3, 2020
    STIL9Jan 8, 2013
    STX111Nov 1, 2021
    STXBP110Sep 9, 2016
    STXBP24Oct 6, 2021
    SUCLA21Jan 8, 2013
    SUMF16Jan 3, 2019
    SUOX6Jun 27, 2017
    SYCE21Oct 17, 2019
    TAF11Jan 8, 2013
    TANGO24Feb 12, 2018
    TARDBP16Mar 12, 2015
    TBC1D246Mar 17, 2022
    TEK2Jan 8, 2013
    TERC32Mar 26, 2013
    TERT38Jan 8, 2013
    TFAP2B10Jan 8, 2013
    TFR224Jan 8, 2013
    TGFB16Mar 5, 2015
    TGIF12Apr 30, 2013
    TGM12Oct 15, 2021
    TGM52Oct 13, 2016
    TH3Jul 22, 2021
    THOC64Jan 15, 2021
    TIMM8A3Jan 8, 2013
    TINF217Jan 8, 2013
    TK232Jan 8, 2013
    TMEM2161Aug 18, 2021
    TMEM2371Mar 26, 2013
    TMEM431Oct 22, 2021
    TMEM674Feb 10, 2016
    TNNT11Mar 26, 2013
    TNXB3Apr 30, 2013
    TOR1A10Nov 17, 2016
    TPM21Apr 30, 2013
    TPM312Feb 25, 2015
    TPP12Apr 30, 2013
    TRAPPC2L1Jul 28, 2021
    TRB4Jul 9, 2020
    TREM26Mar 12, 2015
    TREX117Mar 13, 2014
    TRIO7Mar 27, 2017
    TRPS139Jan 24, 2017
    TRPV453Apr 7, 2014
    TSC25Sep 17, 2015
    TSEN21Jan 8, 2013
    TSEN341Jan 8, 2013
    TSEN544Jan 8, 2013
    TTBK23Mar 26, 2013
    TTC141Apr 30, 2013
    TTN18Jun 2, 2020
    TTN-AS118Jun 2, 2020
    TTPA16Oct 13, 2016
    TUBA1A4Dec 4, 2015
    TUBB2B1Dec 4, 2015
    TUBB311Aug 20, 2021
    TUBB4A32Jul 5, 2016
    TWNK5Jan 8, 2013
    TXNL4A12Mar 28, 2016
    TYMP78Jan 14, 2016
    TYR2Apr 30, 2013
    TYROBP3Mar 12, 2015
    UBA13Jan 8, 2013
    UMOD9Nov 2, 2021
    UNC13D5Oct 6, 2021
    UROD3Sep 8, 2016
    UROS10Sep 21, 2021
    USB123Jun 26, 2017
    USH1C7May 19, 2016
    USH1G4May 19, 2016
    USH2A5May 19, 2016
    USH2A-AS11May 19, 2016
    UTP231Jan 28, 2016
    VCAN11Jan 7, 2016
    VCAN-AS111Jan 7, 2016
    VLDLR3Jan 8, 2013
    VPS13B3Jul 21, 2016
    VPS3513Apr 19, 2017
    VWF19May 9, 2022
    WAC2Aug 28, 2017
    WASHC55Feb 7, 2020
    WDR192Apr 30, 2013
    WDR351Apr 30, 2013
    WDR35-DT1Apr 30, 2013
    WFS11Jan 8, 2013
    WNK16Jul 9, 2021
    WNK48Feb 23, 2017
    WNT10A2Oct 13, 2021
    WNT5A4Oct 6, 2014
    WRAP534Mar 26, 2013
    WRN7May 27, 2021
    WT13Jan 22, 2021
    XK4Oct 22, 2021
    XPA3Sep 26, 2016
    XPC1Sep 26, 2016
    ZAP708Oct 19, 2021
    ZDHHC242Jan 8, 2013
    ZFYVE261Apr 30, 2013
    ZIC26Apr 30, 2013
    ZMYND102Sep 22, 2015
    ZRANB32Oct 31, 2017

    Condition

    NameSubmissionsLast Updated
    15q11q13 microduplication syndrome1Mar 2, 2016
    3-Methylglutaconic aciduria type 33Jan 8, 2013
    3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia20Sep 14, 2016
    ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder5Sep 3, 2021
    AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3Dec 10, 2021
    ALS2-Related Disorders2Apr 30, 2013
    Abetalipoproteinaemia5Jul 27, 2018
    Achromatopsia 32Apr 30, 2013
    Achromatopsia 41Apr 30, 2013
    Achromatopsia 72Nov 6, 2015
    Acral peeling skin syndrome2Oct 13, 2016
    Acrocephalosyndactyly type I4Jul 25, 2019
    Action myoclonus-renal failure syndrome20Mar 5, 2015
    Acute myeloid leukemia10Nov 24, 2021
    Adenine phosphoribosyltransferase deficiency6Jun 18, 2015
    Adrenoleukodystrophy1Dec 11, 2019
    Agenesis of the corpus callosum with peripheral neuropathy6Jun 13, 2014
    Aicardi-Goutieres syndrome 117Mar 13, 2014
    Aicardi-Goutieres syndrome 411Nov 22, 2016
    Aicardi-Goutieres syndrome 521Mar 13, 2014
    Aicardi-Goutieres syndrome 62Mar 13, 2014
    Alagille syndrome due to a JAG1 point mutation5Dec 18, 2019
    Alexander disease110Mar 25, 2022
    Alkaptonuria11Aug 13, 2021
    Allan-Herndon-Dudley syndrome8Apr 30, 2013
    Alpha thalassemia-X-linked intellectual disability syndrome1Nov 6, 2014
    Alpha-1-antitrypsin deficiency14Nov 12, 2015
    Alternating hemiplegia of childhood 236Nov 6, 2014
    Alzheimer disease4Mar 26, 2013
    Alzheimer disease 312Jan 8, 2013
    Alzheimer disease 44Mar 26, 2013
    Amish lethal microcephaly2Mar 16, 2022
    Amyotrophic lateral sclerosis type 1016Mar 12, 2015
    Amyotrophic lateral sclerosis type 2, juvenile2Apr 30, 2013
    Amyotrophic neuralgia3Jan 8, 2013
    Andersen Tawil syndrome8Aug 6, 2015
    Androgen resistance syndrome2Sep 3, 2014
    Anemia, congenital dyserythropoietic, type 1a1Aug 4, 2021
    Aplastic anemia24Jan 8, 2013
    Arginine:glycine amidinotransferase deficiency3Dec 10, 2015
    Argininosuccinate lyase deficiency3Mar 26, 2013
    Arrhythmogenic right ventricular dysplasia 123Oct 22, 2021
    Arrhythmogenic right ventricular dysplasia 132Oct 22, 2021
    Arrhythmogenic right ventricular dysplasia 51Oct 22, 2021
    Arterial calcification, generalized, of infancy, 14Aug 22, 2014
    Arterial tortuosity syndrome20Nov 13, 2014
    Arts syndrome4Mar 26, 2013
    Ataxia-hypogonadism-choroidal dystrophy syndrome5Aug 11, 2021
    Ataxia-pancytopenia syndrome4Mar 1, 2017
    Ataxia-telangiectasia syndrome21Oct 27, 2016
    Atelosteogenesis type I6Mar 26, 2013
    Atelosteogenesis type III4Mar 26, 2013
    Atypical glycine encephalopathy3Sep 19, 2017
    Atypical hemolytic-uremic syndrome with I factor anomaly1Apr 30, 2013
    Autoimmune lymphoproliferative syndrome type 17Dec 13, 2021
    Autoimmune lymphoproliferative syndrome type 2A4Dec 13, 2021
    Autosomal dominant Parkinson disease 8142Dec 11, 2014
    Autosomal dominant Robinow syndrome 14Oct 6, 2014
    Autosomal dominant Robinow syndrome 28Jul 30, 2015
    Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome3Jan 8, 2013
    Autosomal dominant mitochondrial myopathy with exercise intolerance4Oct 20, 2021
    Autosomal dominant nocturnal frontal lobe epilepsy3Feb 19, 2015
    Autosomal dominant nocturnal frontal lobe epilepsy 15Mar 26, 2013
    Autosomal dominant nocturnal frontal lobe epilepsy 37Mar 26, 2013
    Autosomal dominant nocturnal frontal lobe epilepsy 41Jan 8, 2013
    Autosomal dominant nocturnal frontal lobe epilepsy 54Feb 19, 2015
    Autosomal dominant nonsyndromic hearing loss 2A10May 10, 2018
    Autosomal dominant nonsyndromic hearing loss 3A13Dec 22, 2016
    Autosomal dominant nonsyndromic hearing loss 3B2Dec 22, 2016
    Autosomal dominant nonsyndromic hearing loss 61Jan 8, 2013
    Autosomal dominant optic atrophy classic form9Nov 13, 2015
    Autosomal dominant osteopetrosis 22Mar 3, 2022
    Autosomal dominant popliteal pterygium syndrome2Nov 9, 2021
    Autosomal recessive DOPA responsive dystonia3Jul 22, 2021
    Autosomal recessive ataxia due to ubiquinone deficiency19Jun 7, 2016
    Autosomal recessive congenital ichthyosis5Oct 15, 2021
    Autosomal recessive juvenile Parkinson disease 24Mar 26, 2013
    Autosomal recessive limb-girdle muscular dystrophy type 2A13Nov 16, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2L4Jan 8, 2013
    Autosomal recessive nonsyndromic hearing loss 1A18Aug 18, 2016
    Autosomal recessive nonsyndromic hearing loss 995Jul 30, 2015
    Autosomal recessive osteopetrosis 43Apr 30, 2013
    Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency6Jan 18, 2015
    Azorean disease3Sep 28, 2015
    Bailey-Bloch congenital myopathy5Sep 12, 2019
    Baraitser-Winter syndrome2Apr 4, 2022
    Baraitser-Winter syndrome 11Sep 17, 2015
    Bardet-Biedl syndrome25Apr 30, 2013
    Bardet-Biedl syndrome 13Feb 20, 2014
    Basal ganglia calcification, idiopathic, 42Apr 30, 2013
    Batten-Turner congenital myopathy14Nov 16, 2021
    Benign Rolandic epilepsy2Mar 31, 2016
    Benign neonatal seizures1Mar 31, 2016
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy3Mar 26, 2013
    Bethlem myopathy 17Mar 12, 2021
    Bietti crystalline corneoretinal dystrophy33Mar 26, 2013
    Biotinidase deficiency5Jan 8, 2013
    Birk-Barel syndrome2Dec 12, 2016
    Blepharophimosis - intellectual disability syndrome, SBBYS type5Feb 7, 2020
    Blepharophimosis, ptosis, and epicanthus inversus syndrome12Feb 5, 2015
    Bloom syndrome2Aug 22, 2019
    Brain small vessel disease 1 with or without ocular anomalies6Jan 8, 2013
    Brain small vessel disease with hemorrhage2Jan 8, 2013
    Branchiootic syndrome 32Jan 8, 2013
    Branchiootorenal syndrome 14Apr 30, 2013
    Branchiootorenal syndrome 24Jan 8, 2013
    Breast-ovarian cancer, familial, susceptibility to, 21Dec 15, 2016
    Brown-Vialetto-van Laere syndrome 126Nov 3, 2021
    Brown-Vialetto-van Laere syndrome 211Sep 29, 2015
    Brugada syndrome 14Sep 9, 2014
    Brugada syndrome 22Sep 9, 2014
    Brugada syndrome 32Sep 9, 2014
    Brugada syndrome 41Sep 9, 2014
    Brugada syndrome 71Sep 9, 2014
    CARASIL syndrome12Sep 23, 2014
    CEBALID syndrome3Jan 14, 2021
    CK syndrome2Jan 8, 2013
    CLOVES syndrome4Apr 30, 2013
    Camptomelic dysplasia2Jan 8, 2013
    Cardiac valvular dysplasia, X-linked5Oct 13, 2021
    Cardio-facio-cutaneous syndrome14Mar 3, 2016
    Cardiofaciocutaneous syndrome 32May 14, 2015
    Carney complex, type 127Jan 29, 2015
    Carnitine palmitoyl transferase 1A deficiency27Mar 29, 2022
    Carnitine palmitoyltransferase II deficiency23May 27, 2021
    Catecholaminergic polymorphic ventricular tachycardia 14Mar 26, 2013
    Catecholaminergic polymorphic ventricular tachycardia 24Oct 13, 2016
    Catecholaminergic polymorphic ventricular tachycardia 42Mar 6, 2014
    Central core myopathy76Apr 30, 2013
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 13Jan 8, 2013
    Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome5Jan 14, 2021
    Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Nov 6, 2014
    Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 13Aug 22, 2019
    Cerebral cavernous malformation2Aug 4, 2016
    Cerebral cavernous malformation 22Aug 4, 2016
    Ceroid lipofuscinosis, neuronal, 6A3Apr 30, 2013
    Char syndrome10Jan 8, 2013
    Charcot-Marie-Tooth disease7Jul 12, 2021
    Charcot-Marie-Tooth disease X-linked dominant 114Jan 8, 2013
    Charcot-Marie-Tooth disease X-linked recessive 52Jan 8, 2013
    Charcot-Marie-Tooth disease axonal type 2K1Nov 29, 2012
    Charcot-Marie-Tooth disease type 1B25Mar 26, 2015
    Charcot-Marie-Tooth disease type 1C9Dec 18, 2014
    Charcot-Marie-Tooth disease type 1D4Mar 26, 2013
    Charcot-Marie-Tooth disease type 1E4Dec 18, 2014
    Charcot-Marie-Tooth disease type 1F4Mar 26, 2013
    Charcot-Marie-Tooth disease type 2D8Jul 23, 2021
    Charcot-Marie-Tooth disease type 2E3Mar 26, 2013
    Charcot-Marie-Tooth disease type 4A1Nov 29, 2012
    Charcot-Marie-Tooth disease type 4B11Nov 29, 2012
    Charcot-Marie-Tooth disease type 4C14Apr 12, 2021
    Charcot-Marie-Tooth disease type 4D1Nov 29, 2012
    Charcot-Marie-Tooth disease type 4E3Jan 8, 2013
    Charcot-Marie-Tooth disease type 4F5Aug 20, 2015
    Charcot-Marie-Tooth disease type 4G1Aug 20, 2015
    Charcot-Marie-Tooth disease type 4H6Nov 29, 2012
    Charcot-Marie-Tooth disease type 4J1Nov 29, 2012
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1Nov 29, 2012
    Charcot-Marie-Tooth disease, type IA4Jan 8, 2013
    Charlevoix-Saguenay spastic ataxia4Feb 8, 2021
    Child syndrome5Apr 30, 2013
    Childhood apraxia of speech34May 25, 2021
    Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome12Mar 28, 2016
    Cholestanol storage disease61Mar 29, 2022
    Choroideremia5Dec 2, 2021
    Chromosome 15q13.3 microdeletion syndrome1Jan 8, 2013
    Chromosome 17q12 deletion syndrome1Feb 9, 2016
    Chromosome 17q12 duplication syndrome1Dec 16, 2015
    Chromosome 2q32-q33 deletion syndrome13Jun 2, 2017
    Chromosome 3q29 microdeletion syndrome1May 19, 2016
    Chronic granulomatous disease5Feb 11, 2016
    Chylomicron retention disease2Mar 25, 2022
    Ch├ędiak-Higashi syndrome41Jan 15, 2015
    Citrullinemia type I12Sep 1, 2016
    Citrullinemia type II6Jan 8, 2013
    Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency17Apr 30, 2013
    Classic homocystinuria3Mar 15, 2022
    Cleidocranial dysostosis7Feb 3, 2022
    Cockayne syndrome2Sep 26, 2016
    Coenzyme Q10 deficiency9Jun 7, 2016
    Coenzyme Q10 deficiency, primary, 32Jun 7, 2016
    Coffin-Siris syndrome 12Jul 17, 2019
    Coffin-Siris syndrome 81Aug 24, 2021
    Cohen syndrome3Jul 21, 2016
    Cold-induced sweating syndrome 16Aug 20, 2021
    Combined immunodeficiency due to ZAP70 deficiency8Oct 19, 2021
    Combined oxidative phosphorylation defect type 141Jan 24, 2019
    Complex cortical dysplasia with other brain malformations 71Dec 4, 2015
    Cone dystrophy 41Apr 30, 2013
    Cone-rod dystrophy 132Apr 30, 2013
    Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency2Nov 4, 2021
    Congenital cataract-hearing loss-severe developmental delay syndrome6Aug 21, 2019
    Congenital cataracts-facial dysmorphism-neuropathy syndrome1Jan 8, 2013
    Congenital contractural arachnodactyly2Dec 11, 2019
    Congenital defect of folate absorption8Jul 14, 2021
    Congenital disorder of deglycosylation3Aug 25, 2017
    Congenital dyserythropoietic anemia type type 1B2Feb 20, 2014
    Congenital dyserythropoietic anemia, type I2Jan 8, 2013
    Congenital generalized lipodystrophy type 117Dec 8, 2016
    Congenital generalized lipodystrophy type 215Dec 8, 2016
    Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder5Jul 1, 2020
    Congenital myasthenic syndrome21Jul 14, 2016
    Congenital myopathy with fiber type disproportion26Apr 30, 2013
    Congenital plasminogen activator inhibitor type 1 deficiency3Apr 4, 2017
    Congenital stationary night blindness 2A1Mar 26, 2013
    Congenital stromal corneal dystrophy3Apr 30, 2013
    Cornelia de Lange syndrome 42Jan 28, 2016
    Cowden syndrome 13Dec 16, 2021
    Cranioectodermal dysplasia 16Apr 30, 2013
    Cranioectodermal dysplasia 21Apr 30, 2013
    Cranioectodermal dysplasia 31Apr 30, 2013
    Cranioectodermal dysplasia 42Apr 30, 2013
    Craniosynostosis 21Jan 8, 2013
    Creatine transporter deficiency4Apr 30, 2013
    Cutaneous porphyria11Sep 21, 2021
    Cutis laxa with osteodystrophy11Apr 30, 2013
    Cutis laxa, autosomal dominant 11Jan 8, 2013
    Cutis laxa, autosomal recessive, type 1A16Jan 8, 2013
    Cystic fibrosis27May 21, 2021
    Cystinosis7Oct 6, 2016
    DDX41-related hematologic malignancy predisposition syndrome10Nov 1, 2021
    DOORS syndrome6Mar 17, 2022
    DYRK1A-related intellectual disability syndrome1Dec 24, 2015
    Deafness dystonia syndrome3Jan 8, 2013
    Deafness with labyrinthine aplasia, microtia, and microdontia12Nov 29, 2012
    Deafness-encephaloneuropathy-obesity-valvulopathy syndrome3Jun 7, 2016
    Deafness-infertility syndrome1Mar 26, 2013
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase14Apr 13, 2021
    Deficiency of alpha-mannosidase5Jan 8, 2013
    Deficiency of butyryl-CoA dehydrogenase3Aug 13, 2014
    Deficiency of ferroxidase43Nov 16, 2015
    Deficiency of guanidinoacetate methyltransferase6Dec 10, 2015
    Dejerine-Sottas disease2Jan 8, 2013
    Dent disease type 123Sep 25, 2014
    Dent disease type 24Sep 25, 2014
    Dentatorubral-pallidoluysian atrophy4Jan 8, 2013
    Developmental and epileptic encephalopathy, 11Mar 31, 2016
    Developmental and epileptic encephalopathy, 1337Apr 28, 2022
    Developmental and epileptic encephalopathy, 3411Aug 2, 2018
    Developmental and epileptic encephalopathy, 410Sep 9, 2016
    Developmental and epileptic encephalopathy, 768Mar 31, 2016
    Developmental malformations-deafness-dystonia syndrome1Sep 17, 2015
    Diabetes mellitus, transient neonatal, 32Jan 8, 2013
    Diamond-Blackfan anemia 81Apr 30, 2013
    Diaphyseal dysplasia6Mar 5, 2015
    Diastrophic dysplasia10Apr 30, 2013
    Dilated cardiomyopathy 1A6Apr 30, 2013
    Donnai-Barrow syndrome12Jan 8, 2013
    Dopa-responsive dystonia due to sepiapterin reductase deficiency1Apr 13, 2015
    Dopamine beta-hydroxylase deficiency12Mar 14, 2022
    Duane-radial ray syndrome5Apr 8, 2022
    Dyskeratosis congenita, X-linked36Jan 8, 2013
    Dyskeratosis congenita, autosomal dominant 149Mar 26, 2013
    Dyskeratosis congenita, autosomal dominant 62Jun 16, 2016
    Dyskeratosis congenita, autosomal recessive 16Jan 8, 2013
    Dyskeratosis congenita, autosomal recessive 34Mar 26, 2013
    Dyskeratosis congenita, autosomal recessive 51Jun 16, 2016
    Dystonia 1215Nov 6, 2014
    Dystonia 253Jul 13, 2018
    Dystonia 28, childhood-onset2Feb 2, 2018
    Early-onset generalized limb-onset dystonia10Nov 17, 2016
    Early-onset myopathy with fatal cardiomyopathy2Nov 29, 2012
    Ectodermal dysplasia4Oct 13, 2021
    Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant3Oct 13, 2021
    Ehlers-Danlos syndrome, classic type2Jan 8, 2013
    Ehlers-Danlos syndrome, kyphoscoliotic and deafness type3Jul 25, 2019
    Encephalocraniocutaneous lipomatosis7Feb 25, 2022
    Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2Jun 7, 2016
    Epidermolysis bullosa simplex 1A, generalized severe5Mar 26, 2013
    Epidermolysis bullosa simplex with migratory circinate erythema1Apr 30, 2013
    Epidermolysis bullosa simplex with mottled pigmentation1Mar 26, 2013
    Epidermolysis bullosa simplex, Ogna type1Apr 30, 2013
    Epilepsy, familial focal, with variable foci 173Apr 13, 2016
    Epilepsy, familial focal, with variable foci 41Jun 8, 2021
    Epilepsy, familial temporal lobe, 17Aug 27, 2015
    Epilepsy, progressive myoclonic, 1B3Mar 26, 2013
    Episodic ataxia type 14Jun 25, 2015
    Episodic kinesigenic dyskinesia 13Nov 6, 2017
    Ethylmalonic encephalopathy24Apr 5, 2017
    FG syndrome 151Aug 26, 2021
    FLNB-Related Disorders2Jan 8, 2013
    Fabry disease3Jan 5, 2017
    Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation2Aug 28, 2017
    Familial Mediterranean fever16Dec 15, 2016
    Familial acute necrotizing encephalopathy3Dec 4, 2014
    Familial adenomatous polyposis 14May 25, 2021
    Familial atrial myxoma1Mar 26, 2013
    Familial digital arthropathy-brachydactyly3Apr 7, 2014
    Familial dysautonomia2Nov 10, 2021
    Familial dyskinesia and facial myokymia5Dec 17, 2015
    Familial hemiplegic migraine14Jul 8, 2021
    Familial hemophagocytic lymphohistiocytosis 24Oct 6, 2021
    Familial hemophagocytic lymphohistiocytosis 35Oct 6, 2021
    Familial hemophagocytic lymphohistiocytosis 55Nov 1, 2021
    Familial hyperkalemic periodic paralysis20Jul 27, 2021
    Familial isolated deficiency of vitamin E16Oct 13, 2016
    Familial juvenile hyperuricemic nephropathy type 19Nov 2, 2021
    Familial porphyria cutanea tarda3Sep 8, 2016
    Familial steroid-resistant nephrotic syndrome with sensorineural deafness7Jun 7, 2016
    Familial temporal lobe epilepsy 77Aug 27, 2015
    Fanconi anemia complementation group A4Jun 8, 2021
    Fanconi anemia complementation group C6Jun 8, 2021
    Fanconi anemia complementation group G4Jun 8, 2021
    Farber lipogranulomatosis3Jan 31, 2018
    Fatal familial insomnia1Feb 22, 2021
    Feingold syndrome type 16Nov 27, 2019
    Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement11Aug 20, 2021
    Floating-Harbor syndrome2Jan 8, 2013
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 12Nov 7, 2014
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 22Jul 1, 2015
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 77Apr 30, 2013
    Fumarase deficiency2Apr 30, 2013
    GNE myopathy10Jun 10, 2020
    Gaucher disease19Apr 30, 2013
    Geleophysic dysplasia 15Jan 8, 2013
    Generalized juvenile polyposis/juvenile polyposis coli3Jan 8, 2013
    Genitopatellar syndrome1Feb 7, 2020
    Gerstmann-Straussler-Scheinker syndrome1Feb 22, 2021
    Glaucoma 3A2Mar 16, 2022
    Glucose-6-phosphate transport defect3Aug 25, 2016
    Glutaric aciduria, type 111Oct 17, 2019
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA7Aug 25, 2016
    Glycogen storage disease type III10Jan 28, 2022
    Glycogen storage disease, type II6Jul 26, 2021
    Glycogen storage disease, type IV15Apr 30, 2013
    Glycogen storage disease, type V13Jul 9, 2014
    Glycogen storage disease, type VI19Mar 26, 2013
    Gnathodiaphyseal dysplasia2Jan 8, 2013
    Gnb5-related intellectual disability-cardiac arrhythmia syndrome6Nov 2, 2021
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11Nov 29, 2012
    Grn-related frontotemporal lobar degeneration with Tdp43 inclusions3Apr 16, 2020
    Hartsfield-Bixler-Demyer syndrome7Jan 6, 2016
    Hb SS disease5Apr 6, 2022
    Hemochromatosis type 15Sep 22, 2015
    Hemochromatosis type 324Jan 8, 2013
    Hemochromatosis type 42Sep 22, 2015
    Hemolytic uremic syndrome, atypical, susceptibility to, 16Oct 19, 2021
    Hepatic veno-occlusive disease-immunodeficiency syndrome6Jan 12, 2017
    Hereditary breast ovarian cancer syndrome8Feb 17, 2022
    Hereditary diffuse leukoencephalopathy with spheroids43Dec 18, 2014
    Hereditary factor IX deficiency disease2Jun 5, 2014
    Hereditary factor VIII deficiency disease2Mar 26, 2013
    Hereditary fructosuria9Dec 2, 2021
    Hereditary insensitivity to pain with anhidrosis8Apr 30, 2013
    Hereditary leiomyomatosis and renal cell cancer3Aug 20, 2015
    Hereditary liability to pressure palsies3Feb 25, 2022
    Hereditary myopathy with lactic acidosis due to ISCU deficiency2Mar 3, 2016
    Hereditary pancreatitis26Jul 9, 2020
    Hereditary pheochromocytoma-paraganglioma6Jan 8, 2013
    Hereditary sclerosing poikiloderma with tendon and pulmonary involvement9Oct 25, 2021
    Hereditary sensory and autonomic neuropathy type 72Nov 9, 2017
    Hereditary spastic paraplegia 1198Mar 26, 2013
    Hereditary spastic paraplegia 391Jul 28, 2014
    Hereditary spastic paraplegia 3A12Apr 30, 2013
    Hereditary spastic paraplegia 42Aug 26, 2019
    Hereditary spastic paraplegia 771Jan 24, 2019
    Hereditary spastic paraplegia 84Apr 30, 2013
    Hereditary spherocytosis type 56May 29, 2014
    Hermansky-Pudlak syndrome 15Apr 7, 2022
    Hermansky-Pudlak syndrome 32Nov 18, 2021
    Hermansky-Pudlak syndrome 41Nov 18, 2021
    Hermansky-Pudlak syndrome 62Nov 18, 2021
    High myopia-sensorineural deafness syndrome3Nov 24, 2014
    Holoprosencephaly 28Apr 30, 2013
    Holoprosencephaly 333Apr 30, 2013
    Holoprosencephaly 43Apr 30, 2013
    Holoprosencephaly 57Apr 30, 2013
    Hoyeraal-Hreidarsson syndrome2Jan 8, 2013
    Huntington disease4Jan 8, 2013
    Hutchinson-Gilford syndrome18Jan 8, 2015
    Hyper-IgE recurrent infection syndrome 15Apr 3, 2020
    Hyper-IgM syndrome type 12May 12, 2020
    Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency4Aug 27, 2021
    Hypercholesterolemia, autosomal dominant, 35Dec 8, 2016
    Hypercholesterolemia, autosomal dominant, type B3Dec 8, 2016
    Hypercholesterolemia, familial, 12Dec 8, 2016
    Hyperekplexia 123Apr 30, 2013
    Hyperekplexia 22Apr 30, 2013
    Hyperekplexia 310Apr 30, 2013
    Hypermanganesemia with dystonia 28Mar 13, 2017
    Hypermanganesemia with dystonia, polycythemia, and cirrhosis15Feb 9, 2017
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome8Jun 17, 2020
    Hypochondroplasia9Mar 26, 2022
    Hypokalemic periodic paralysis, type 113Aug 7, 2014
    Hypokalemic periodic paralysis, type 23Aug 7, 2014
    Hypomyelinating leukodystrophy 1113Jul 22, 2021
    Hypomyelinating leukodystrophy 22Jun 6, 2017
    Hypomyelinating leukodystrophy 632Jul 5, 2016
    Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism52Jul 22, 2021
    Hypomyelination and Congenital Cataract4Jan 27, 2021
    Hypophosphatasia8Feb 4, 2016
    Hypophosphatemic rickets, X-linked recessive2Sep 25, 2014
    Hypotonia, ataxia, and delayed development syndrome8Jun 17, 2021
    IMAGe syndrome8Aug 6, 2021
    Idiopathic Pulmonary Fibrosis13Jan 8, 2013
    Idiopathic basal ganglia calcification 12Apr 30, 2013
    Infantile GM1 gangliosidosis6Sep 1, 2021
    Infantile convulsions and choreoathetosis1Nov 6, 2017
    Infantile cortical hyperostosis1Nov 29, 2012
    Infantile onset spinocerebellar ataxia3Jan 8, 2013
    Infantile-onset X-linked spinal muscular atrophy3Jan 8, 2013
    Infantile-onset ascending hereditary spastic paralysis9Apr 30, 2013
    Inherited Creutzfeldt-Jakob disease3Feb 22, 2021
    Inherited prion disease2Apr 30, 2013
    Intellectual disability, X-linked 10211Feb 22, 2022
    Intellectual disability, autosomal dominant 14Jul 21, 2016
    Intellectual disability, autosomal dominant 151Aug 24, 2021
    Intellectual disability, autosomal dominant 429Jan 15, 2021
    Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome7Jul 15, 2020
    Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome4Oct 25, 2021
    Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1Mar 26, 2013
    Isolated sulfite oxidase deficiency6Jun 27, 2017
    Jervell and Lange-Nielsen syndrome 13Mar 17, 2022
    Joubert syndrome2Mar 26, 2013
    Joubert syndrome 178Aug 18, 2021
    Joubert syndrome 21Aug 18, 2021
    Joubert syndrome 211Aug 18, 2021
    Joubert syndrome 231Aug 18, 2021
    Joubert syndrome 281Aug 18, 2021
    Joubert syndrome 71Aug 18, 2021
    Junctional epidermolysis bullosa gravis of Herlitz7Apr 30, 2013
    Junctional epidermolysis bullosa with pyloric atresia1Jan 21, 2022
    Juvenile onset Parkinson disease 19A9May 14, 2021
    Juvenile primary lateral sclerosis4Apr 30, 2013
    KBG syndrome1Dec 1, 2017
    Kartagener syndrome58Apr 13, 2016
    Kearns-Sayre syndrome1Oct 17, 2019
    Kennedy disease4Jan 26, 2017
    Kindler syndrome20Jan 28, 2022
    Kleefstra syndrome 116May 7, 2015
    Koolen-de Vries syndrome7Mar 26, 2013
    Kugelberg-Welander disease1Jan 22, 2016
    LEOPARD syndrome 19Apr 30, 2013
    Lafora disease8Jan 22, 2015
    Landau-Kleffner syndrome5Mar 16, 2016
    Larsen syndrome12Mar 26, 2013
    Lateral meningocele syndrome6May 10, 2016
    Leber congenital amaurosis 11Apr 30, 2013
    Leber congenital amaurosis 102Apr 30, 2013
    Leber congenital amaurosis 121Apr 30, 2013
    Leber congenital amaurosis 131Apr 30, 2013
    Leber congenital amaurosis 34Apr 30, 2013
    Leber congenital amaurosis 47Apr 30, 2013
    Leber congenital amaurosis 54Apr 30, 2013
    Leber congenital amaurosis 71Apr 30, 2013
    Leber congenital amaurosis 81Apr 30, 2013
    Leber congenital amaurosis 91Apr 30, 2013
    Leber optic atrophy36May 12, 2021
    Legius syndrome4Mar 26, 2013
    Leigh syndrome37Dec 9, 2021
    Leprechaunism syndrome2Mar 6, 2017
    Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3Dec 8, 2021
    Leukoencephalopathy with mild cerebellar ataxia and white matter edema39Nov 9, 2015
    Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome62Jul 22, 2021
    Linear skin defects with multiple congenital anomalies 13Jan 8, 2013
    Lipid proteinosis7Jul 25, 2021
    Lissencephaly due to LIS1 mutation2Dec 11, 2014
    Lissencephaly due to TUBA1A mutation4Dec 4, 2015
    Lowe syndrome8Sep 25, 2014
    Luscan-Lumish syndrome2Jan 28, 2022
    Lynch syndrome 150Jan 7, 2022
    Lysinuric protein intolerance4Dec 11, 2019
    Lysosomal acid lipase deficiency2Sep 1, 2016
    MERRF syndrome5Jan 28, 2021
    MIRAGE syndrome4Jan 8, 2021
    MUTYH-related attenuated familial adenomatous polyposis11Oct 22, 2021
    MYH7-related skeletal myopathy6Jan 12, 2022
    Macrothrombocytopenia1Oct 13, 2021
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss14Dec 9, 2021
    Majeed syndrome6Mar 26, 2013
    Maple syrup urine disease4Apr 30, 2013
    Martsolf syndrome3Oct 31, 2017
    Maternal riboflavin deficiency1Sep 29, 2015
    Maturity-onset diabetes of the young type 21Jan 8, 2013
    McCune-Albright syndrome9Sep 30, 2015
    McLeod neuroacanthocytosis syndrome4Oct 22, 2021
    Megalencephalic leukoencephalopathy with subcortical cysts 19Mar 26, 2013
    Megalencephalic leukoencephalopathy with subcortical cysts 2A3Apr 30, 2013
    Megalencephaly-capillary malformation-polymicrogyria syndrome1Apr 30, 2013
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Aug 8, 2016
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 23Aug 8, 2016
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 37Aug 8, 2016
    Melanoma, cutaneous malignant, susceptibility to, 103Jan 14, 2021
    Melnick-Needles syndrome3Mar 26, 2013
    Menkes kinky-hair syndrome2Sep 22, 2021
    Merosin deficient congenital muscular dystrophy5Nov 29, 2012
    Metachromatic leukodystrophy15Jun 22, 2017
    Metaphyseal chondrodysplasia, McKusick type1Nov 29, 2012
    Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency3Jan 7, 2016
    Methylmalonic aciduria and homocystinuria type cblD7Dec 1, 2016
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency31Dec 1, 2016
    Microcephalic osteodysplastic dysplasia, Saul-Wilson type2Apr 17, 2020
    Microcephalic osteodysplastic primordial dwarfism type II2Feb 8, 2022
    Microcephaly 1, primary, autosomal recessive7Mar 26, 2013
    Microcephaly 3, primary, autosomal recessive18Jan 8, 2013
    Microcephaly 5, primary, autosomal recessive101Mar 26, 2013
    Microcephaly 6, primary, autosomal recessive11Jan 8, 2013
    Microcephaly 7, primary, autosomal recessive9Jan 8, 2013
    Microcephaly, normal intelligence and immunodeficiency13Feb 2, 2017
    Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome7Mar 27, 2017
    Microphthalmia, syndromic 11Oct 2, 2014
    Mirror movements 113Jan 6, 2015
    Mirror movements 24Jan 6, 2015
    Mitochondrial DNA depletion syndrome 180Jan 14, 2016
    Mitochondrial DNA depletion syndrome 31Jan 8, 2013
    Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Jan 8, 2013
    Mitochondrial DNA depletion syndrome, myopathic form32Jan 8, 2013
    Mitochondrial disease13Apr 30, 2013
    Mitochondrial non-syndromic sensorineural hearing loss14Jun 14, 2018
    Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2Sep 12, 2019
    Miyoshi muscular dystrophy 16Oct 20, 2021
    Miyoshi muscular dystrophy 31Jan 8, 2013
    Mucolipidosis type II91Apr 30, 2013
    Mucolipidosis type III gamma17Mar 26, 2013
    Mucolipidosis type IV10Jan 4, 2022
    Mucopolysaccharidosis18Oct 17, 2019
    Mucopolysaccharidosis type 118Nov 19, 2021
    Mucopolysaccharidosis, MPS-II4Dec 4, 2019
    Mucopolysaccharidosis, MPS-III-A6Apr 30, 2013
    Mucopolysaccharidosis, MPS-IV-A10Jul 28, 2021
    Multiple cutaneous and mucosal venous malformations2Jan 8, 2013
    Multiple epiphyseal dysplasia28Apr 5, 2022
    Multiple fibrofolliculomas3Aug 13, 2014
    Multiple mitochondrial dysfunctions syndrome 43Nov 29, 2017
    Multiple mitochondrial dysfunctions syndrome 52Nov 7, 2019
    Multiple sulfatase deficiency6Jan 3, 2019
    Myhre syndrome4Jan 31, 2017
    Myofibrillar myopathy 11Apr 30, 2013
    Myofibrillar myopathy 23Jan 8, 2013
    Myofibrillar myopathy 31Jan 8, 2013
    Myofibrillar myopathy 41Mar 26, 2013
    Myofibrillar myopathy 61Jan 8, 2013
    Myopathy, myofibrillar, 9, with early respiratory failure8Jun 2, 2020
    Myostatin-related muscle hypertrophy3Apr 30, 2013
    Navajo neurohepatopathy20Apr 30, 2013
    Nemaline myopathy 14Feb 25, 2015
    Nemaline myopathy 21Apr 30, 2013
    Nemaline myopathy 41Apr 30, 2013
    Nemaline myopathy 51Mar 26, 2013
    Nemaline myopathy 71Mar 26, 2013
    Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome6Jun 7, 2016
    Neonatal intrahepatic cholestasis due to citrin deficiency10Mar 26, 2013
    Nephronophthisis19Feb 10, 2016
    Nephropathic cystinosis7Apr 30, 2013
    Nephrotic syndrome 141Jan 13, 2021
    Nephrotic syndrome, type 911Jun 7, 2016
    Neuroblastoma, susceptibility to, 38Apr 30, 2013
    Neurodegeneration with brain iron accumulation1Jun 7, 2021
    Neurodegeneration with brain iron accumulation 43May 29, 2014
    Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation3Apr 16, 2019
    Neurofibromatosis, type 16Jan 27, 2022
    Neuromuscular disease19Apr 7, 2014
    Neuronal ceroid lipofuscinosis 12Apr 30, 2013
    Neuronal ceroid lipofuscinosis 22Apr 30, 2013
    Neuronal ceroid lipofuscinosis 32Apr 30, 2013
    Neuronal ceroid lipofuscinosis 52Apr 30, 2013
    Neuronal ceroid lipofuscinosis 72Apr 30, 2013
    Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1Apr 30, 2013
    Neuronopathy, distal hereditary motor, type 5A5Jul 23, 2021
    Neuropathy, hereditary sensory and autonomic, type 1A4Mar 26, 2013
    Neuropathy, hereditary sensory and autonomic, type 2A6Jul 9, 2021
    Niemann-Pick disease, type C113Mar 26, 2013
    Niemann-Pick disease, type C210Jan 8, 2013
    Non-ketotic hyperglycinemia6Apr 30, 2013
    Noonan syndrome 111Feb 25, 2016
    Noonan syndrome with multiple lentigines6Apr 30, 2013
    Ocular cystinosis2Mar 26, 2013
    Oculocutaneous albinism type 1B1Apr 30, 2013
    Oculocutaneous albinism type 43Jan 20, 2022
    Oculofaciocardiodental syndrome1Oct 2, 2014
    Optic atrophy 33Jan 8, 2013
    Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Jan 8, 2013
    Orofaciodigital syndrome I2Aug 4, 2016
    PMM2-CDG12Nov 6, 2015
    PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome5Jan 27, 2017
    Pachyonychia congenita 21Jul 25, 2014
    Pachyonychia congenita 35Jul 25, 2014
    Pallister-Hall syndrome1Nov 29, 2012
    Pancreatic agenesis 12Jan 8, 2013
    Paragangliomas 21Nov 29, 2012
    Paragangliomas 53Nov 6, 2014
    Parathyroid carcinoma8Apr 30, 2013
    Parietal foramina 21Jan 8, 2013
    Parkinson disease 1713Apr 19, 2017
    Paroxysmal nocturnal hemoglobinuria 11Mar 26, 2013
    Paroxysmal nonkinesigenic dyskinesia 13Oct 17, 2019
    Pelizaeus-Merzbacher disease3Dec 26, 2019
    Pendred syndrome8Nov 2, 2021
    Permanent neonatal diabetes mellitus63Aug 7, 2017
    Peroxisome biogenesis disorder4Jan 27, 2021
    Perry syndrome1Aug 6, 2021
    Peters plus syndrome3Jan 8, 2013
    Phelan-McDermid syndrome1Dec 11, 2019
    Phenylketonuria7Oct 20, 2016
    Phytanic acid storage disease2Jan 8, 2013
    Pigmentary pallidal degeneration5Nov 15, 2021
    Pigmented nodular adrenocortical disease, primary, 11Mar 26, 2013
    Pituitary adenoma, growth hormone-secreting, 22Jun 16, 2017
    Pituitary dependent hypercortisolism1Jan 8, 2013
    Pituitary hormone deficiency, combined, 25Apr 18, 2022
    Poikiloderma with neutropenia23Jun 26, 2017
    Polycystic kidney disease, adult type1Jun 11, 2015
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 19Mar 12, 2015
    Pontocerebellar hypoplasia type 1B3Apr 28, 2014
    Pontocerebellar hypoplasia type 2A1Jan 8, 2013
    Pontocerebellar hypoplasia type 2B1Jan 8, 2013
    Pontocerebellar hypoplasia type 2C1Jan 8, 2013
    Pontocerebellar hypoplasia type 43Jan 8, 2013
    Potocki-Lupski syndrome1Jun 14, 2017
    Primary ciliary dyskinesia 113Apr 30, 2013
    Primary ciliary dyskinesia 133Apr 30, 2013
    Primary ciliary dyskinesia 144Apr 30, 2013
    Primary ciliary dyskinesia 152Apr 30, 2013
    Primary ciliary dyskinesia 161Apr 30, 2013
    Primary ciliary dyskinesia 181Apr 30, 2013
    Primary ciliary dyskinesia 195Apr 30, 2013
    Primary ciliary dyskinesia 32Apr 30, 2013
    Primary ciliary dyskinesia 62Apr 30, 2013
    Primary ciliary dyskinesia 73Apr 30, 2013
    Primary ciliary dyskinesia 91Apr 30, 2013
    Primary erythromelalgia16Mar 23, 2020
    Primary familial polycythemia due to EPO receptor mutation5Nov 14, 2016
    Primary hyperoxaluria type 32Jul 31, 2015
    Primary hyperoxaluria, type I13Jul 24, 2014
    Primary hyperoxaluria, type II4Mar 26, 2013
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Jan 8, 2013
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Jan 8, 2013
    Progressive familial intrahepatic cholestasis type 16Oct 27, 2021
    Progressive osseous heteroplasia1Jan 25, 2017
    Prolidase deficiency4Apr 6, 2015
    Propionic acidemia21Jan 8, 2013
    Proteus syndrome1Nov 29, 2012
    Protoporphyria, erythropoietic, 11Nov 29, 2012
    Proximal 16p11.2 microdeletion syndrome1Mar 26, 2013
    Pseudo-Hurler polydystrophy29Apr 30, 2013
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome12Jul 16, 2015
    Pseudohypoaldosteronism type 2B8Feb 23, 2017
    Pseudohypoaldosteronism type 2C2Feb 23, 2017
    Pseudohypoparathyroidism1Jan 25, 2017
    Pseudopseudohypoparathyroidism1Jan 25, 2017
    Pyridoxine-dependent epilepsy3Aug 4, 2021
    Pyruvate carboxylase deficiency16Apr 30, 2013
    Pyruvate dehydrogenase E3 deficiency1Apr 7, 2014
    RRM2B-related mitochondrial disease34Aug 23, 2021
    Radial aplasia-thrombocytopenia syndrome5Dec 8, 2016
    Rahman syndrome17Jan 12, 2021
    Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome4Feb 12, 2018
    Renal coloboma syndrome3Nov 20, 2014
    Retinal cone dystrophy 3A1Apr 30, 2013
    Retinitis pigmentosa3Jan 8, 2013
    Rett syndrome8Oct 17, 2019
    Rhizomelic chondrodysplasia punctata type 18Jan 8, 2013
    Ritscher-Schinzel syndrome 13Feb 7, 2020
    Roberts-SC phocomelia syndrome27Apr 2, 2020
    SHORT syndrome7Apr 7, 2014
    Schaaf-Yang syndrome2Dec 13, 2021
    Schwannomatosis 11Dec 18, 2017
    Sclerosteosis 111Mar 31, 2022
    Sea-blue histiocyte syndrome1Apr 7, 2014
    Seizures, benign familial infantile, 21Nov 6, 2017
    Seizures, benign familial neonatal, 1102Mar 31, 2016
    Seizures, benign familial neonatal, 226Jan 20, 2022
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Jan 8, 2013
    Shwachman-Diamond syndrome 113Jan 8, 2013
    Sialic acid storage disease, severe infantile type2Mar 9, 2020
    Sialuria3Nov 29, 2012
    Skeletal dysplasia41Apr 7, 2014
    Smith-Lemli-Opitz syndrome13Nov 14, 2019
    Somatotroph adenoma66Mar 26, 2013
    Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy8Aug 15, 2018
    Spermatogenic failure 72Jun 3, 2021
    Sphingomyelin/cholesterol lipidosis11Jun 18, 2015
    Spinal muscular atrophy, infantile, James type3Jul 23, 2021
    Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1Jan 31, 2018
    Spinocerebellar ataxia type 106Jan 8, 2013
    Spinocerebellar ataxia type 113Mar 26, 2013
    Spinocerebellar ataxia type 1431May 17, 2020
    Spinocerebellar ataxia type 161Jun 13, 2014
    Spinocerebellar ataxia type 22Aug 22, 2019
    Spinocerebellar ataxia type 2812Nov 29, 2012
    Spinocerebellar ataxia type 362Apr 2, 2014
    Spinocerebellar ataxia type 383Sep 12, 2019
    Spondylocarpotarsal synostosis syndrome5Mar 26, 2013
    Spondylocostal dysostosis 1, autosomal recessive4Apr 30, 2013
    Spondylocostal dysostosis 2, autosomal recessive10Apr 30, 2013
    Spondylocostal dysostosis 3, autosomal recessive1Jan 8, 2013
    Spondylocostal dysostosis 4, autosomal recessive1Mar 26, 2013
    Spondyloepimetaphyseal dysplasia, matrilin-3 type1Apr 30, 2013
    Spondylometaphyseal dysplasia - Sutcliffe type6May 29, 2020
    Squalene synthase deficiency1Apr 16, 2020
    Steinert myotonic dystrophy syndrome3Apr 30, 2013
    Stickler syndrome type 12May 27, 2021
    Stickler syndrome, type 41May 27, 2021
    Stickler syndrome, type 51May 27, 2021
    Syndromic X-linked intellectual disability Snyder type6Mar 5, 2020
    THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome4Jan 15, 2021
    Terminal osseous dysplasia-pigmentary defects syndrome1Apr 30, 2013
    Thanatophoric dysplasia type 113Apr 30, 2013
    Thanatophoric dysplasia, type 21Apr 30, 2013
    Thrombocytopenia, X-linked, with or without dyserythropoietic anemia11Jul 26, 2021
    Thrombophilia due to thrombin defect5Jan 12, 2022
    Thyrotoxic periodic paralysis, susceptibility to, 19Aug 7, 2014
    Tibial muscular dystrophy8May 28, 2020
    Timothy syndrome6Dec 16, 2021
    Tourette syndrome2Jan 8, 2013
    Townes-Brocks syndrome 12Jan 14, 2016
    Transcription level of plasminogen activator inhibitor 11Apr 4, 2017
    Trichorhinophalangeal dysplasia type I39Jan 24, 2017
    Trimethylaminuria6Nov 3, 2015
    Tuberous sclerosis 25Sep 17, 2015
    Tubulointerstitial kidney disease, autosomal dominant, 25Oct 28, 2021
    Tumoral calcinosis, hyperphosphatemic, familial, 13Jun 26, 2017
    Tyrosinase-negative oculocutaneous albinism1Apr 30, 2013
    Tyrosinemia type I11Oct 21, 2021
    UDPglucose-4-epimerase deficiency7Nov 10, 2021
    Unverricht-Lundborg syndrome14Nov 25, 2014
    Urofacial syndrome type 12Apr 30, 2013
    Usher syndrome type 131May 19, 2016
    Usher syndrome type 1C3Apr 30, 2013
    Usher syndrome type 1G3Apr 30, 2013
    Usher syndrome type 1J1Apr 30, 2013
    Van der Woude syndrome 14Dec 2, 2021
    Vanishing white matter disease10Oct 17, 2019
    Variegate porphyria1Jan 2, 2020
    Vasculitis due to ADA2 deficiency7Sep 12, 2019
    Very long chain acyl-CoA dehydrogenase deficiency4May 26, 2021
    Visceral myopathy9Jun 29, 2021
    Vitamin B12-responsive methylmalonic acidemia type cblA15Dec 1, 2016
    Vitamin B12-responsive methylmalonic acidemia type cblB11Jan 7, 2016
    Wagner syndrome11Jan 7, 2016
    Warburg micro syndrome 19Oct 31, 2017
    Warburg micro syndrome 21Oct 31, 2017
    Warburg micro syndrome 34Oct 31, 2017
    Warsaw breakage syndrome1Jul 25, 2019
    Weaver syndrome3Aug 6, 2015
    Werner syndrome7May 27, 2021
    Wilms tumor 13Jan 22, 2021
    Wilson disease3Jul 28, 2016
    Woodhouse-Sakati syndrome1Jul 16, 2021
    X-linked Alport syndrome3Mar 26, 2013
    X-linked chondrodysplasia punctata 16Jan 8, 2013
    X-linked dystonia-parkinsonism1Jan 8, 2013
    X-linked erythropoietic protoporphyria3Mar 26, 2013
    X-linked severe combined immunodeficiency2Aug 9, 2021
    X-linked sideroblastic anemia with ataxia4Apr 4, 2014
    Xeroderma pigmentosum group A3Sep 26, 2016
    Xeroderma pigmentosum variant type6Sep 26, 2016
    Xeroderma pigmentosum, group C1Sep 26, 2016
    Xeroderma pigmentosum, group D2Sep 26, 2016
    alpha Thalassemia15Dec 29, 2016
    beta Thalassemia42Apr 1, 2022
    not provided3Apr 7, 2014
    von Willebrand disorder19May 9, 2022
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