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: 6244

    Gene

    GeneSubmissionsLast Updated
    AARS12Jul 22, 2015
    ABCB74Apr 4, 2014
    ABCC814Jan 8, 2013
    ABCD11Dec 11, 2019
    ACADS3Aug 13, 2014
    ACADVL14Jan 8, 2013
    ACD2Jun 16, 2016
    ACTA17Apr 30, 2013
    ACTB11Sep 17, 2015
    ACTG16Sep 17, 2015
    ADA27Sep 12, 2019
    ADAMTSL25Jan 8, 2013
    ADAR2Mar 13, 2014
    ADCY55Dec 17, 2015
    ADGRV12May 19, 2016
    ADNP4Feb 11, 2016
    AFG3L212Nov 29, 2012
    AGL9Jan 8, 2013
    AGPAT217Dec 8, 2016
    AGRN9Jul 14, 2016
    AGXT13Jul 24, 2014
    AIP67Mar 26, 2013
    AIPL17Apr 30, 2013
    AKT11Nov 29, 2012
    AKT33Aug 8, 2016
    ALAS23Mar 26, 2013
    ALDOB7Oct 7, 2015
    ALK8Apr 30, 2013
    ALPL8Feb 4, 2016
    ALS217Apr 30, 2013
    ALX41Jan 8, 2013
    AMT3Apr 30, 2013
    ANKRD111Dec 1, 2017
    ANO57Jan 8, 2013
    AOPEP2Sep 27, 2016
    AP3B15Jan 8, 2013
    APBB12Jun 18, 2015
    APC4Jan 8, 2013
    APOB3Dec 8, 2016
    APOE1Apr 7, 2014
    APP4Mar 26, 2013
    APRT6Jun 18, 2015
    AR8Jan 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
    ATM42Oct 27, 2016
    ATN13Jan 8, 2013
    ATP1A351Nov 6, 2014
    ATP6V0A211Apr 30, 2013
    ATP7B3Jul 28, 2016
    ATP8B15Apr 2, 2014
    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
    BLOC1S31Jan 8, 2013
    BRAF14Mar 3, 2016
    BRCA13Dec 15, 2016
    BRCA23Dec 15, 2016
    BSCL215Dec 8, 2016
    BTD5Jan 8, 2013
    C10orf1051May 19, 2016
    C11orf6512Oct 27, 2016
    C17orf1071Jul 14, 2016
    C19orf124May 29, 2014
    C2orf883Apr 30, 2013
    C9orf722Nov 7, 2014
    CA5A3Jan 8, 2015
    CACNA1C6Jul 16, 2015
    CACNA1F1Mar 26, 2013
    CACNA1S7Aug 7, 2014
    CACNB21Sep 9, 2014
    CALM12Mar 6, 2014
    CAPN35Jan 8, 2013
    CASP103Sep 23, 2014
    CASQ24Oct 13, 2016
    CATSPER12Jan 8, 2013
    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
    CDAN110Jan 8, 2013
    CDC738Apr 30, 2013
    CDCA7L1Apr 30, 2013
    CDH235May 19, 2016
    CDH23-AS11May 19, 2016
    CDIN12Feb 20, 2014
    CDK135Jul 1, 2020
    CDK5RAP218Jan 8, 2013
    CDKN1C7Sep 8, 2016
    CEBPA9Jan 8, 2013
    CENPJ11Jan 8, 2013
    CEP2903Feb 10, 2016
    CFAP2983Sep 22, 2015
    CFAP298-TCP10L3Sep 22, 2015
    CFH2Jan 8, 2013
    CFI1Apr 30, 2013
    CFL21Mar 26, 2013
    CFTR9May 29, 2014
    CFTR-AS13May 29, 2014
    CHAT1Jul 14, 2016
    CHCHD106Jul 1, 2015
    CHM1Feb 26, 2015
    CHMP2B7Apr 30, 2013
    CHPT13Apr 30, 2013
    CHRNA21Jan 8, 2013
    CHRNA45Mar 26, 2013
    CHRNB27Mar 26, 2013
    CHRNE4Jul 14, 2016
    CIB22May 19, 2016
    CLCF14Jan 8, 2013
    CLCN127Aug 6, 2015
    CLCN239Nov 9, 2015
    CLCN525Sep 25, 2014
    CLCN74Apr 30, 2013
    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 29, 2020
    COL4A111Jan 8, 2013
    COL4A53Mar 26, 2013
    COL5A12Jan 8, 2013
    COL9A11Oct 30, 2014
    COL9A21Oct 30, 2014
    COMP22Jul 16, 2015
    COQ29Jun 7, 2016
    COQ46Jun 7, 2016
    COQ67Jun 7, 2016
    COQ8A19Jun 7, 2016
    COQ8B11Jun 7, 2016
    COQ92Jun 7, 2016
    CP46Nov 16, 2015
    CPLANE16Mar 26, 2013
    CPT1A33Apr 30, 2013
    CPT223May 15, 2014
    CRB11Apr 30, 2013
    CRH3Feb 19, 2015
    CRLF112Mar 17, 2016
    CRX1Apr 30, 2013
    CRYAB3Jan 8, 2013
    CSF1R43Dec 18, 2014
    CSTB14Nov 25, 2014
    CTDP11Jan 8, 2013
    CTNS16Oct 6, 2016
    CTRC5May 29, 2014
    CYBA1Feb 11, 2016
    CYBB2Feb 11, 2016
    CYP21A217Apr 30, 2013
    CYP27A162Apr 30, 2013
    CYP4V233Mar 26, 2013
    DARS23Jan 8, 2013
    DBH13Apr 13, 2016
    DBH-AS11Nov 9, 2015
    DCAF171May 13, 2016
    DCC13Jan 6, 2015
    DCN3Apr 30, 2013
    DCTN110Sep 29, 2016
    DDX111Jul 25, 2019
    DEPDC573Apr 13, 2016
    DES1Apr 30, 2013
    DHCR713Nov 14, 2019
    DKC138Jan 8, 2013
    DLD1Apr 7, 2014
    DLG11May 19, 2016
    DLG41Jan 8, 2013
    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
    DNAJB22Jul 22, 2015
    DNAL12Sep 22, 2015
    DOK71Jul 14, 2016
    DRC12Sep 22, 2015
    DTNBP12Dec 11, 2014
    DUSP294Feb 7, 2020
    DVL18Jul 30, 2015
    DYNC1H11Jul 22, 2015
    DYRK1A1Dec 24, 2015
    ECHS12Sep 12, 2019
    ECM16Feb 24, 2016
    EDARADD3Apr 30, 2013
    EFEMP211Jan 8, 2013
    EGR28Mar 26, 2013
    EHMT116May 7, 2015
    EIF2B21Oct 17, 2019
    EIF2B32Oct 17, 2019
    EIF2B57Oct 17, 2019
    ELOVL53Sep 12, 2019
    ENPP14Aug 22, 2014
    ENTPD57Jun 7, 2016
    EPB426May 29, 2014
    EPM2A3Jan 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
    F23Aug 21, 2014
    F84Mar 26, 2013
    F92Jun 5, 2014
    FAH9Mar 26, 2013
    FAM111B6May 5, 2016
    FAM126A4Jan 27, 2021
    FANCA2Mar 26, 2013
    FANCC5Sep 27, 2016
    FANCG5Mar 26, 2013
    FANCI2Jan 8, 2013
    FARS22Jan 24, 2019
    FASLG2Sep 23, 2014
    FBLN56Jan 8, 2013
    FBN22Dec 11, 2019
    FBXL31Apr 30, 2013
    FBXO30-DT2Jan 22, 2015
    FBXO451May 19, 2016
    FDFT11Apr 16, 2020
    FECH1Nov 29, 2012
    FERMT125Jan 7, 2016
    FGD46Nov 29, 2012
    FGF232Jun 26, 2017
    FGF312Nov 29, 2012
    FGFR17Jan 6, 2016
    FGFR24Jul 25, 2019
    FGFR332Apr 30, 2013
    FH5Aug 20, 2015
    FIG41Nov 29, 2012
    FKBP143Jul 25, 2019
    FKBP14-AS12Jul 25, 2019
    FLCN3Aug 13, 2014
    FLNA7Apr 30, 2013
    FLNB29Mar 26, 2013
    FLNB-AS11Mar 26, 2013
    FMO36Nov 3, 2015
    FN13May 29, 2020
    FOXL212Feb 5, 2015
    FOXP227Mar 2, 2016
    G6PC17Aug 25, 2016
    G6PC36Jan 18, 2015
    GAA5Apr 30, 2013
    GALE9Jan 8, 2013
    GALNS3Mar 24, 2016
    GALT17Dec 8, 2015
    GAMT6Dec 10, 2015
    GATA112Oct 1, 2014
    GATM3Dec 10, 2015
    GBA19Apr 30, 2013
    GBE113Apr 30, 2013
    GCDH11Oct 17, 2019
    GCK6Apr 30, 2013
    GDAP15Jul 22, 2015
    GFAP110Jan 8, 2015
    GH-LCR23Jul 14, 2016
    GJB114Jan 8, 2013
    GJB231Dec 22, 2016
    GJB63Dec 22, 2016
    GJC22Jun 6, 2017
    GLA3Jan 5, 2017
    GLDC3Apr 30, 2013
    GLI330Nov 29, 2012
    GLIS22Feb 10, 2016
    GLRA122Apr 30, 2013
    GLRB2Apr 30, 2013
    GNAL3Jul 13, 2018
    GNAS12Jan 25, 2017
    GNAT21Apr 30, 2013
    GNB19Jan 15, 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
    HBB47May 14, 2015
    HBZ1Dec 29, 2016
    HCCS3Jan 8, 2013
    HEPACAM3Apr 30, 2013
    HES71Mar 26, 2013
    HFE5Sep 22, 2015
    HFE-AS12Sep 22, 2015
    HGD12Apr 30, 2013
    HGSNAT4Oct 17, 2019
    HIGD2B1Apr 30, 2013
    HK11Aug 20, 2015
    HNRNPK3Apr 16, 2019
    HNRNPUL2-BSCL215Dec 8, 2016
    HOGA12Jul 31, 2015
    HPDL1Apr 13, 2016
    HPS127Mar 26, 2013
    HPS37Jan 8, 2013
    HPS410Jan 8, 2013
    HPS57Jan 8, 2013
    HPS61Jan 8, 2013
    HPSE22Apr 30, 2013
    HSPB83Jul 22, 2015
    HTRA112Sep 23, 2014
    HTT4Jan 8, 2013
    HYDIN2Sep 17, 2015
    IDS4Dec 4, 2019
    IDUA18Feb 11, 2016
    IFT1226Apr 30, 2013
    IFT431Apr 30, 2013
    IGHMBP27Jul 22, 2015
    IL2RG5Apr 14, 2016
    INS18Aug 7, 2017
    INS-IGF214Aug 7, 2017
    INSR2Mar 6, 2017
    INVS4Feb 10, 2016
    IQCB11Feb 10, 2016
    IQCG3Apr 30, 2013
    ISCA12Nov 7, 2019
    ISCA23Nov 29, 2017
    ISCU2Mar 3, 2016
    ITGB41Jun 25, 2020
    ITPR11Jun 13, 2014
    JAG15Dec 18, 2019
    JUP3Jan 8, 2013
    KANSL16Jan 8, 2013
    KAT6B6Feb 7, 2020
    KCNA14Jun 25, 2015
    KCNJ1127Jan 8, 2013
    KCNJ189Aug 7, 2014
    KCNJ26Aug 6, 2015
    KCNJ52Aug 6, 2015
    KCNK92Dec 12, 2016
    KCNQ11Nov 20, 2014
    KCNQ2177Mar 31, 2016
    KCNQ39Jan 8, 2013
    KCNQ48May 10, 2018
    KCNT14Feb 19, 2015
    KIF1A2Apr 30, 2013
    KIF1B1Jul 22, 2015
    KIF21A3Jan 14, 2016
    KL1Jun 26, 2017
    KMT2B2Feb 2, 2018
    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
    LMNA33Jul 22, 2015
    LOC1001309874Jan 8, 2013
    LOC1014482021Jan 8, 2013
    LOC1019278702Aug 27, 2015
    LOC1019282221Apr 30, 2013
    LOC1019295241Jan 8, 2013
    LOC1060293121Nov 29, 2012
    LOC1060501022Dec 4, 2019
    LOC10609906234May 14, 2015
    LOC10662798117Apr 30, 2013
    LOC10678080016Apr 30, 2013
    LOC1068046128Dec 29, 2016
    LOC1068046132Dec 29, 2016
    LOC1070753174Apr 30, 2013
    LOC10713351045May 14, 2015
    LOC1071812876Jan 8, 2013
    LOC1086604044Jan 8, 2013
    LOC1086639872Sep 28, 2015
    LOC1090295331Nov 25, 2014
    LOC1091159644Nov 29, 2012
    LOC1094614771Apr 30, 2013
    LOC1094614794Jan 8, 2013
    LOC1094614843Jan 8, 2013
    LOC1095047255Jan 26, 2017
    LOC1095047272Apr 2, 2014
    LOC1095047282Nov 7, 2014
    LOC11000631912May 14, 2015
    LOC1100085801Apr 30, 2013
    LOC1101214861Mar 26, 2013
    LOC1106314171Apr 30, 2013
    LOC1108062634Jan 8, 2013
    LOC1108063069Mar 26, 2013
    LOC1116744752May 29, 2014
    LOC1125434703Mar 17, 2016
    LOC1136871751Jan 8, 2013
    LOC1170387953Nov 22, 2016
    LPIN26Mar 26, 2013
    LRP212Jan 8, 2013
    LRRK2142Dec 11, 2014
    LRSAM12Jul 22, 2015
    LTBP45May 7, 2015
    LYST41Jan 15, 2015
    LZTFL12Feb 20, 2014
    MAN2B15Jan 8, 2013
    MAP2K15Mar 3, 2016
    MAP2K23Mar 3, 2016
    MARS12Jul 22, 2015
    MATN34Apr 30, 2013
    MBD54Jul 21, 2016
    MCEE3Jan 7, 2016
    MCIDAS3Sep 22, 2015
    MCOLN127Jul 30, 2015
    MCPH17Mar 26, 2013
    MCPH1-AS12Jan 8, 2013
    MEA17Jul 15, 2020
    MECP28Oct 17, 2019
    MED1211Aug 11, 2016
    MED252Jul 22, 2015
    MEFV16Dec 15, 2016
    MESP210Apr 30, 2013
    MFSD82Apr 30, 2013
    MHRT24Mar 12, 2015
    MKKS6Apr 30, 2013
    MLC19Mar 26, 2013
    MMAA15Dec 1, 2016
    MMAB11Jan 7, 2016
    MMADHC7Dec 1, 2016
    MMUT31Dec 1, 2016
    MN13Jan 14, 2021
    MPV1720Apr 30, 2013
    MPZ28Jul 22, 2015
    MSTN3Apr 30, 2013
    MSX21Jan 8, 2013
    MT-ATP611Sep 1, 2016
    MT-CO15Jun 14, 2018
    MT-CO33Sep 8, 2014
    MT-CYB2Apr 30, 2013
    MT-ND114Sep 8, 2014
    MT-ND23Sep 8, 2014
    MT-ND35Sep 8, 2014
    MT-ND45Sep 8, 2014
    MT-ND4L1Apr 30, 2013
    MT-ND58Sep 8, 2014
    MT-ND613Sep 8, 2014
    MT-RNR14Jun 14, 2018
    MT-TE1Apr 30, 2013
    MT-TF1Jan 29, 2015
    MT-TK6Jan 28, 2021
    MT-TL11Sep 8, 2014
    MT-TS111Jun 14, 2018
    MT-TV2Sep 8, 2014
    MT-TW3Sep 8, 2014
    MTMR21Nov 29, 2012
    MTTP5Jul 27, 2018
    MUS812Jan 8, 2013
    MUTYH12Dec 13, 2019
    MYCN6Nov 27, 2019
    MYCNOS1Nov 27, 2019
    MYH730Mar 12, 2015
    MYH916Jul 16, 2015
    MYO7A10May 19, 2016
    MYOT1Jan 8, 2013
    NAA101Oct 2, 2014
    NAGLU9Oct 17, 2019
    NBN13Feb 2, 2017
    NCF11Nov 29, 2012
    NCF42Feb 11, 2016
    NCF4-AS12Feb 11, 2016
    NDRG11Nov 29, 2012
    NDUFS71Jan 8, 2013
    NEB1Apr 30, 2013
    NEFL8Dec 18, 2014
    NGLY13Aug 25, 2017
    NHLRC15Jan 22, 2015
    NHP23Jan 8, 2013
    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
    OFD1117Aug 4, 2016
    OPA110Nov 13, 2015
    OPA1-AS11Apr 30, 2013
    OPA36Jan 8, 2013
    OTOF95Jul 30, 2015
    OTOP21May 19, 2016
    PAFAH1B18Dec 11, 2014
    PAH7Oct 20, 2016
    PAK21May 19, 2016
    PAX23Nov 20, 2014
    PC16Apr 30, 2013
    PCCA6Jan 8, 2013
    PCCB15Jan 8, 2013
    PCDH156May 19, 2016
    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
    PLEC1Apr 30, 2013
    PLEKHG21Apr 30, 2013
    PLP13Dec 26, 2019
    PLUT1Apr 30, 2013
    PMM212Nov 6, 2015
    PMP2211Dec 18, 2014
    PNKD3Oct 17, 2019
    PNPLA62Jul 28, 2014
    POLG19Apr 30, 2013
    POLH6Sep 26, 2016
    POLR3A17Mar 26, 2013
    POLR3B8Jan 8, 2013
    POT13Jan 14, 2021
    PPOX1Jan 2, 2020
    PPP2R5D7Jul 15, 2020
    PPT12Apr 30, 2013
    PRDM161May 19, 2016
    PRICKLE13Mar 26, 2013
    PRKAR1A29Jan 29, 2015
    PRKCG31May 17, 2020
    PRKN4Mar 26, 2013
    PRNP7Feb 22, 2021
    PRPS16Mar 26, 2013
    PRRT25Nov 6, 2017
    PRSS15Jul 9, 2020
    PRX5Aug 20, 2015
    PSEN114Jan 8, 2013
    PSEN22Mar 26, 2013
    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
    RANBP23Dec 4, 2014
    RAPSN3Jul 14, 2016
    RBM8A4Dec 8, 2016
    RD31Apr 30, 2013
    RDH121Apr 30, 2013
    RELN7Aug 27, 2015
    RETREG16Jan 8, 2013
    RFC15Jan 14, 2021
    RFC31Mar 2, 2016
    RMND5B3Jan 8, 2013
    RMRP1Nov 29, 2012
    RNASEH2A11Nov 22, 2016
    RNF1681May 19, 2016
    RNF172Jan 8, 2013
    RPGRIP12Apr 30, 2013
    RPGRIP1L2Feb 10, 2016
    RPL35A3Apr 30, 2013
    RPL36A-HNRNPH23Jan 5, 2017
    RPS172Apr 30, 2013
    RPS243Apr 30, 2013
    RPS71Apr 30, 2013
    RRM2B36May 29, 2014
    RSPH16Sep 22, 2015
    RSPH31Sep 22, 2015
    RSPH4A5Sep 22, 2015
    RSPH91Sep 17, 2015
    RTEL11Jun 16, 2016
    RTEL1-TNFRSF6B1Jun 16, 2016
    RUNX23Apr 30, 2013
    RYR166Apr 30, 2013
    RYR24Mar 26, 2013
    SACS4Feb 8, 2021
    SALL12Jan 14, 2016
    SALL44Jan 15, 2015
    SAMD94Jan 8, 2021
    SAMD9L4Mar 1, 2017
    SAMHD121Mar 13, 2014
    SARM14Apr 30, 2013
    SATB213Jun 2, 2017
    SBDS13Jan 8, 2013
    SCARB220Mar 5, 2015
    SCN11A2Nov 9, 2017
    SCN1A-AS111Mar 23, 2020
    SCN3B1Sep 9, 2014
    SCN4A38Jul 14, 2016
    SCN5A4Sep 9, 2014
    SCN8A36Feb 19, 2016
    SCN9A17Mar 23, 2020
    SCO235Jan 14, 2016
    SDHA3Nov 6, 2014
    SDHAF21Nov 29, 2012
    SDHD6Jan 8, 2013
    SELENON1Apr 30, 2013
    SEPTIN93Jan 8, 2013
    SERPINA114Nov 12, 2015
    SERPINE14Apr 4, 2017
    SGCB1Jan 8, 2013
    SGPL11Jan 13, 2021
    SGSH6Oct 17, 2019
    SH3TC221Mar 26, 2013
    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
    SLC26A17Feb 11, 2016
    SLC26A210Apr 30, 2013
    SLC26A47Jun 3, 2014
    SLC2A1020Nov 13, 2014
    SLC30A1014Feb 9, 2017
    SLC33A16Aug 21, 2019
    SLC37A43Aug 25, 2016
    SLC39A148Mar 13, 2017
    SLC40A12Sep 22, 2015
    SLC46A116Apr 30, 2013
    SLC52A11Sep 29, 2015
    SLC52A214Sep 29, 2015
    SLC52A331Sep 29, 2015
    SLC6A510Apr 30, 2013
    SLC6A84Apr 30, 2013
    SLC6A93Sep 19, 2017
    SLC7A74Dec 11, 2019
    SLITRK12Jan 8, 2013
    SLITRK63Nov 24, 2014
    SMAD47Jan 31, 2017
    SMARCB12Dec 18, 2017
    SMN21Jan 22, 2016
    SMPD113Jun 18, 2015
    SMS6Mar 5, 2020
    SOX93Jan 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
    STXBP110Sep 9, 2016
    SUCLA21Jan 8, 2013
    SUMF16Jan 3, 2019
    SUOX6Jun 27, 2017
    SYCE21Oct 17, 2019
    TAF11Jan 8, 2013
    TANGO24Feb 12, 2018
    TARDBP16Mar 12, 2015
    TCTN11Mar 26, 2013
    TEK2Jan 8, 2013
    TERC32Mar 26, 2013
    TERT38Jan 8, 2013
    TFAP2B10Jan 8, 2013
    TFR224Jan 8, 2013
    TGFB116Mar 5, 2015
    TGIF12Apr 30, 2013
    TGM11Jan 8, 2013
    TGM52Oct 13, 2016
    TH3Jul 24, 2014
    THOC64Jan 15, 2021
    TIMM8A3Jan 8, 2013
    TINF217Jan 8, 2013
    TK232Jan 8, 2013
    TMEM2161Mar 26, 2013
    TMEM2371Mar 26, 2013
    TMEM674Feb 10, 2016
    TNNT11Mar 26, 2013
    TNXB3Apr 30, 2013
    TOR1A10Nov 17, 2016
    TP637Aug 6, 2015
    TPM21Apr 30, 2013
    TPM312Feb 25, 2015
    TPP12Apr 30, 2013
    TRB4Jul 9, 2020
    TREM26Mar 12, 2015
    TREX117Mar 13, 2014
    TRIO7Mar 27, 2017
    TRPS139Jan 24, 2017
    TRPV457Jul 22, 2015
    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
    TUBB311Jan 14, 2016
    TUBB4A32Jul 5, 2016
    TWNK5Jan 8, 2013
    TXNL4A12Mar 28, 2016
    TYMP85Jan 14, 2016
    TYR2Apr 30, 2013
    TYROBP3Mar 12, 2015
    UBA13Jan 8, 2013
    UMOD1Jun 30, 2016
    UROD3Sep 8, 2016
    UROS10Apr 7, 2016
    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
    WAC2Aug 28, 2017
    WASHC55Feb 7, 2020
    WDR192Apr 30, 2013
    WDR358Apr 30, 2013
    WFS11Jan 8, 2013
    WNK15Feb 23, 2017
    WNK48Feb 23, 2017
    WNT5A4Oct 6, 2014
    WRAP534Mar 26, 2013
    WRN7Jan 8, 2013
    WT13Jan 22, 2021
    XPA3Sep 26, 2016
    XPC1Sep 26, 2016
    ZAP704Mar 26, 2013
    ZDHHC242Jan 8, 2013
    ZFYVE261Apr 30, 2013
    ZIC26Apr 30, 2013
    ZMYND102Sep 22, 2015
    ZNF2761Mar 26, 2013
    ZRANB32Oct 31, 2017

    Condition

    NameSubmissionsLast Updated
    16p11.2 deletion syndrome1Mar 26, 2013
    22q13.3 deletion syndrome1Dec 11, 2019
    3-Methylglutaconic aciduria type 33Jan 8, 2013
    3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia20Sep 14, 2016
    3q29 microdeletion syndrome1May 19, 2016
    ADULT syndrome7Aug 6, 2015
    ALS2-Related Disorders2Apr 30, 2013
    AU-KLINE SYNDROME3Apr 16, 2019
    Abetalipoproteinaemia5Jul 27, 2018
    Achromatopsia 32Apr 30, 2013
    Achromatopsia 41Apr 30, 2013
    Achromatopsia 72Nov 6, 2015
    Acrocephalosyndactyly type I4Jul 25, 2019
    Acute lymphoid leukemia1Sep 17, 2015
    Acute myeloid leukemia10Jan 13, 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 15Dec 18, 2019
    Alexander Disease110Jan 8, 2015
    Alkaptonuria12Apr 30, 2013
    Allan-Herndon-Dudley syndrome8Apr 30, 2013
    Alpha thalassemia-X-linked intellectual disability syndrome1Nov 6, 2014
    Alpha-1-antitrypsin deficiency14Nov 12, 2015
    Alpha-B crystallinopathy3Jan 8, 2013
    Alport syndrome 1, X-linked recessive3Mar 26, 2013
    Alternating hemiplegia of childhood 236Nov 6, 2014
    Alzheimer disease4Mar 26, 2013
    Alzheimer disease, type 312Jan 8, 2013
    Alzheimer disease, type 44Mar 26, 2013
    Amyotrophic lateral sclerosis and/or frontotemporal dementia 12Nov 7, 2014
    Amyotrophic lateral sclerosis type 1016Mar 12, 2015
    Amyotrophic lateral sclerosis type 22Apr 30, 2013
    Amyotrophy, hereditary neuralgic3Jan 8, 2013
    Andersen Tawil syndrome8Aug 6, 2015
    Androgen resistance syndrome4Sep 3, 2014
    Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps3Jan 8, 2013
    Aplastic anemia24Jan 8, 2013
    Arginine:glycine amidinotransferase deficiency3Dec 10, 2015
    Argininosuccinate lyase deficiency3Mar 26, 2013
    Arrhythmogenic right ventricular cardiomyopathy, type 121Jan 8, 2013
    Arterial calcification, generalized, of infancy, 14Aug 22, 2014
    Arterial tortuosity syndrome20Nov 13, 2014
    Arts syndrome4Mar 26, 2013
    Ataxia-hypogonadism-choroidal dystrophy syndrome1Jul 28, 2014
    Ataxia-pancytopenia syndrome4Mar 1, 2017
    Ataxia-telangiectasia syndrome42Oct 27, 2016
    Atelosteogenesis type 16Mar 26, 2013
    Atelosteogenesis type III4Mar 26, 2013
    Atypical hemolytic-uremic syndrome 15Jan 8, 2013
    Atypical hemolytic-uremic syndrome 31Apr 30, 2013
    Autoimmune lymphoproliferative syndrome2Sep 23, 2014
    Autoimmune lymphoproliferative syndrome, type 2A3Sep 23, 2014
    Autosomal dominant medullary cystic kidney disease with hyperuricemia1Jun 30, 2016
    Autosomal dominant nocturnal frontal lobe epilepsy3Feb 19, 2015
    Autosomal dominant nonsyndromic deafness 2A10May 10, 2018
    Autosomal dominant nonsyndromic deafness 61Jan 8, 2013
    Autosomal dominant optic atrophy classic form9Nov 13, 2015
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11Jan 8, 2013
    Autosomal recessive DOPA responsive dystonia3Jul 24, 2014
    Autosomal recessive cutis laxa type IA16Jan 8, 2013
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome2Apr 30, 2013
    Autosomal recessive osteopetrosis 44Apr 30, 2013
    Azorean disease3Sep 28, 2015
    Bailey-Bloch congenital myopathy5Sep 12, 2019
    Baraitser-Winter Syndrome 26Sep 17, 2015
    Baraitser-Winter syndrome 19Sep 17, 2015
    Bardet-Biedl syndrome25Apr 30, 2013
    Bardet-Biedl syndrome 13Feb 20, 2014
    Basal ganglia calcification, idiopathic, 42Apr 30, 2013
    Beaulieu-Boycott-Innes syndrome4Jan 15, 2021
    Benign Rolandic epilepsy2Mar 31, 2016
    Benign familial neonatal seizures1Mar 31, 2016
    Benign familial neonatal seizures 1102Mar 31, 2016
    Benign familial neonatal seizures 212Mar 31, 2016
    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 inversus12Feb 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 11Dec 15, 2016
    Breast-ovarian cancer, familial 21Dec 15, 2016
    Brown-Vialetto-Van Laere syndrome 131Sep 29, 2015
    Brown-Vialetto-Van Laere syndrome 214Sep 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
    Burn-McKeown syndrome12Mar 28, 2016
    CARASIL12Sep 23, 2014
    CEBALID syndrome3Jan 14, 2021
    CK syndrome2Jan 8, 2013
    Camptomelic dysplasia3Jan 8, 2013
    Carbonic anhydrase VA deficiency, hyperammonemia due to3Jan 8, 2015
    Cardiac valvular dysplasia, X-linked2Apr 30, 2013
    Cardio-facio-cutaneous syndrome14Mar 3, 2016
    Cardiofaciocutaneous syndrome 32May 14, 2015
    Carney complex, type 127Jan 29, 2015
    Carnitine palmitoyltransferase 1A deficiency34Apr 30, 2013
    Carnitine palmitoyltransferase II deficiency23May 15, 2014
    Cataract-intellectual disability-hypogonadism syndrome3Oct 31, 2017
    Catecholaminergic polymorphic ventricular tachycardia type 14Mar 26, 2013
    Cd8 deficiency, familial2Jan 8, 2013
    Central core myopathy76Apr 30, 2013
    Cerebellar ataxia, mental retardation, 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 autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 13Aug 22, 2019
    Cerebral cavernous malformation2Aug 4, 2016
    Cerebral cavernous malformations 22Aug 4, 2016
    Ceroid lipofuscinosis neuronal 22Apr 30, 2013
    Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1Apr 30, 2013
    Char syndrome10Jan 8, 2013
    Charcot-Marie-Tooth Neuropathy X Type 114Jan 8, 2013
    Charcot-Marie-Tooth disease34Sep 1, 2016
    Charcot-Marie-Tooth disease and deafness4Dec 18, 2014
    Charcot-Marie-Tooth disease type 2B11Apr 30, 2013
    Charcot-Marie-Tooth disease type 2B21Apr 30, 2013
    Charcot-Marie-Tooth disease type 2E4Apr 30, 2013
    Charcot-Marie-Tooth disease type 2K1Nov 29, 2012
    Charcot-Marie-Tooth disease, X-linked recessive, type 52Jan 8, 2013
    Charcot-Marie-Tooth disease, axonal type 2V1Mar 24, 2016
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1Nov 29, 2012
    Charcot-Marie-Tooth disease, demyelinating, type 1b25Mar 26, 2015
    Charcot-Marie-Tooth disease, demyelinating, type 1d4Mar 26, 2013
    Charcot-Marie-Tooth disease, demyelinating, type 1f4Mar 26, 2013
    Charcot-Marie-Tooth disease, demyelinating, type 4F5Aug 20, 2015
    Charcot-Marie-Tooth disease, type 1C9Dec 18, 2014
    Charcot-Marie-Tooth disease, type 4A2Mar 26, 2013
    Charcot-Marie-Tooth disease, type 4B11Nov 29, 2012
    Charcot-Marie-Tooth disease, type 4C21Mar 26, 2013
    Charcot-Marie-Tooth disease, type 4D1Nov 29, 2012
    Charcot-Marie-Tooth disease, type 4H6Nov 29, 2012
    Charcot-Marie-Tooth disease, type 4J1Nov 29, 2012
    Charcot-Marie-Tooth disease, type IA4Jan 8, 2013
    Charlevoix-Saguenay spastic ataxia4Feb 8, 2021
    Child syndrome5Apr 30, 2013
    Cholestanol storage disease69Apr 30, 2013
    Cholestasis, progressive familial intrahepatic 15Apr 2, 2014
    Choroideremia1Feb 26, 2015
    Chromosome 15q11-q13 duplication syndrome1Mar 2, 2016
    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
    Chronic granulomatous disease5Feb 11, 2016
    Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11Nov 29, 2012
    Ch├ędiak-Higashi syndrome41Jan 15, 2015
    Ciliary dyskinesia, primary, 113Apr 30, 2013
    Ciliary dyskinesia, primary, 133Apr 30, 2013
    Ciliary dyskinesia, primary, 144Apr 30, 2013
    Ciliary dyskinesia, primary, 152Apr 30, 2013
    Ciliary dyskinesia, primary, 161Apr 30, 2013
    Ciliary dyskinesia, primary, 181Apr 30, 2013
    Ciliary dyskinesia, primary, 195Apr 30, 2013
    Ciliary dyskinesia, primary, 32Apr 30, 2013
    Ciliary dyskinesia, primary, 62Apr 30, 2013
    Ciliary dyskinesia, primary, 73Apr 30, 2013
    Ciliary dyskinesia, primary, 91Apr 30, 2013
    Citrullinemia type I12Sep 1, 2016
    Citrullinemia type II6Jan 8, 2013
    Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency17Apr 30, 2013
    Cleidocranial dysostosis3Apr 30, 2013
    Cockayne syndrome2Sep 26, 2016
    Coenzyme Q10 deficiency, primary9Jun 7, 2016
    Coenzyme Q10 deficiency, primary, 23Jun 7, 2016
    Coenzyme Q10 deficiency, primary, 32Jun 7, 2016
    Coenzyme Q10 deficiency, primary, 419Jun 7, 2016
    Coenzyme Q10 deficiency, primary, 52Jun 7, 2016
    Coenzyme Q10 deficiency, primary, 67Jun 7, 2016
    Coenzyme Q10 deficiency, primary, 76Jun 7, 2016
    Coffin-Siris syndrome 12Jul 17, 2019
    Cohen syndrome3Jul 21, 2016
    Cold-induced sweating syndrome 112Mar 17, 2016
    Cold-induced sweating syndrome 24Jan 8, 2013
    Combined immunodeficiency due to ZAP70 deficiency2Mar 26, 2013
    Combined oxidative phosphorylation deficiency 141Jan 24, 2019
    Cone dystrophy 41Apr 30, 2013
    Cone-rod dystrophy 132Apr 30, 2013
    Congenital cataracts, hearing loss, and neurodegeneration6Aug 21, 2019
    Congenital cataracts-facial dysmorphism-neuropathy syndrome1Jan 8, 2013
    Congenital contractural arachnodactyly2Dec 11, 2019
    Congenital defect of folate absorption16Apr 30, 2013
    Congenital disorder of deglycosylation3Aug 25, 2017
    Congenital disorder of glycosylation, type Ia12Nov 6, 2015
    Congenital dyserythropoietic anemia type type 1B2Feb 20, 2014
    Congenital dyserythropoietic anemia, type I10Jan 8, 2013
    Congenital erythropoietic porphyria10Apr 7, 2016
    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 hypomyelinating neuropathy 1, autosomal recessive3Jan 8, 2013
    Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi4Apr 30, 2013
    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, type 2A1Mar 26, 2013
    Congenital stromal corneal dystrophy3Apr 30, 2013
    Cornelia de Lange syndrome 42Jan 28, 2016
    Cranioectodermal dysplasia 16Apr 30, 2013
    Cranioectodermal dysplasia 28Apr 30, 2013
    Cranioectodermal dysplasia 31Apr 30, 2013
    Cranioectodermal dysplasia 42Apr 30, 2013
    Craniosynostosis 21Jan 8, 2013
    Creatine transporter deficiency4Apr 30, 2013
    Cutis laxa with osteodystrophy11Apr 30, 2013
    Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities5May 7, 2015
    Cutis laxa, autosomal dominant 11Jan 8, 2013
    Cystinosis7Oct 6, 2016
    Deafness and myopia3Nov 24, 2014
    Deafness dystonia syndrome3Jan 8, 2013
    Deafness with labyrinthine aplasia microtia and microdontia (LAMM)12Nov 29, 2012
    Deafness, autosomal dominant 3a13Dec 22, 2016
    Deafness, autosomal dominant 3b2Dec 22, 2016
    Deafness, autosomal recessive 1A18Aug 18, 2016
    Deafness, autosomal recessive 4, with enlarged vestibular aqueduct3Jun 3, 2014
    Deafness, autosomal recessive 995Jul 30, 2015
    Deafness, nonsyndromic sensorineural, mitochondrial14Jun 14, 2018
    Deafness-infertility syndrome1Mar 26, 2013
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase17Dec 8, 2015
    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
    Desanto-shinawi syndrome2Aug 28, 2017
    Developmental malformations-deafness-dystonia syndrome1Sep 17, 2015
    Diamond-Blackfan anemia 33Apr 30, 2013
    Diamond-Blackfan anemia 42Apr 30, 2013
    Diamond-Blackfan anemia 53Apr 30, 2013
    Diamond-Blackfan anemia 81Apr 30, 2013
    Diaphyseal dysplasia16Mar 5, 2015
    Diastrophic dysplasia10Apr 30, 2013
    Digital arthropathy-brachydactyly, familial3Apr 7, 2014
    Dilated cardiomyopathy 1A6Apr 30, 2013
    Distal hereditary motor neuronopathy type 7B1Jan 8, 2013
    Donnai-Barrow syndrome12Jan 8, 2013
    Dopa-responsive dystonia due to sepiapterin reductase deficiency1Apr 13, 2015
    Duane-radial ray syndrome4Jan 15, 2015
    Dyskeratosis congenita autosomal recessive 16Jan 8, 2013
    Dyskeratosis congenita, X-linked36Jan 8, 2013
    Dyskeratosis congenita, autosomal dominant 149Mar 26, 2013
    Dyskeratosis congenita, autosomal dominant 62Jun 16, 2016
    Dyskeratosis congenita, autosomal recessive, 34Mar 26, 2013
    Dyskeratosis congenita, autosomal recessive, 51Jun 16, 2016
    Dyskinesia, familial, with facial myokymia5Dec 17, 2015
    Dystonia 110Nov 17, 2016
    Dystonia 1215Nov 6, 2014
    Dystonia 253Jul 13, 2018
    Dystonia 28, childhood-onset2Feb 2, 2018
    Early infantile epileptic encephalopathy 1336Feb 19, 2016
    Early infantile epileptic encephalopathy 3411Aug 2, 2018
    Early infantile epileptic encephalopathy 410Sep 9, 2016
    Early infantile epileptic encephalopathy 768Mar 31, 2016
    Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Apr 30, 2013
    Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss3Jul 25, 2019
    Ehlers-Danlos syndrome, classic type2Jan 8, 2013
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant3Mar 26, 2013
    Encephalopathy, acute, infection-induced, 3, suceptibility to3Dec 4, 2014
    Epidermolysis bullosa junctionalis with pyloric atresia1Jun 25, 2020
    Epidermolysis bullosa simplex Dowling-Meara type5Mar 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 temporal lobe, 77Aug 27, 2015
    Epilepsy, focal, with speech disorder and with or without mental retardation5Mar 16, 2016
    Epilepsy, nocturnal frontal lobe, 54Feb 19, 2015
    Epilepsy, nocturnal frontal lobe, type 15Mar 26, 2013
    Epilepsy, nocturnal frontal lobe, type 37Mar 26, 2013
    Epilepsy, nocturnal frontal lobe, type 41Jan 8, 2013
    Epilepsy, progressive myoclonic 4, with or without renal failure20Mar 5, 2015
    Epileptic encephalopathy, early infantile, 11Mar 31, 2016
    Episodic ataxia type 14Jun 25, 2015
    Episodic kinesigenic dyskinesia 13Nov 6, 2017
    Ethylmalonic encephalopathy24Apr 5, 2017
    FG syndrome 17Aug 11, 2016
    FLNB-Related Disorders2Jan 8, 2013
    Fabry disease3Jan 5, 2017
    Familial Mediterranean fever16Dec 15, 2016
    Familial adenomatous polyposis 14Jan 8, 2013
    Familial atrial myxoma1Mar 26, 2013
    Familial cancer of breast4Apr 30, 2013
    Familial hypercholesterolemia 12Dec 8, 2016
    Familial hypercholesterolemia 23Dec 8, 2016
    Familial hypercholesterolemia 35Dec 8, 2016
    Familial hyperkalemic periodic paralysis26Feb 2, 2016
    Familial isolated deficiency of vitamin E16Oct 13, 2016
    Familial porphyria cutanea tarda3Sep 8, 2016
    Familial temporal lobe epilepsy 17Aug 27, 2015
    Fanconi anemia, complementation group A2Mar 26, 2013
    Fanconi anemia, complementation group C5Sep 27, 2016
    Fanconi anemia, complementation group G5Mar 26, 2013
    Farber disease3Jan 31, 2018
    Fatal familial insomnia1Feb 22, 2021
    Feingold syndrome 16Nov 27, 2019
    Fibrosis of extraocular muscles, congenital, 13Jan 14, 2016
    Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement11Jan 14, 2016
    Floating-Harbor syndrome2Jan 8, 2013
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 23Jul 1, 2015
    Frontotemporal dementia, chromosome 3-linked7Apr 30, 2013
    Fumarase deficiency2Apr 30, 2013
    GATA-1-related thrombocytopenia with dyserythropoiesis10Oct 1, 2014
    GNE myopathy10Jun 10, 2020
    Gaucher disease19Apr 30, 2013
    Geleophysic dysplasia 15Jan 8, 2013
    Generalized juvenile polyposis/juvenile polyposis coli3Jan 8, 2013
    Genetic prion disease2Apr 30, 2013
    Genitopatellar syndrome1Feb 7, 2020
    Gerstmann-Straussler-Scheinker syndrome1Feb 22, 2021
    Glucose-6-phosphate transport defect3Aug 25, 2016
    Glutaric aciduria, type 111Oct 17, 2019
    Glycine encephalopathy with normal serum glycine3Sep 19, 2017
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA7Aug 25, 2016
    Glycogen storage disease type III9Jan 8, 2013
    Glycogen storage disease, type II5Apr 30, 2013
    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
    Grn-related frontotemporal lobar degeneration with Tdp43 inclusions3Apr 16, 2020
    Hartsfield syndrome7Jan 6, 2016
    Hb SS disease5Oct 23, 2014
    Helsmoortel-Van der Aa Syndrome4Feb 11, 2016
    Hemochromatosis type 15Sep 22, 2015
    Hemochromatosis type 324Jan 8, 2013
    Hemochromatosis type 42Sep 22, 2015
    Hepatic veno-occlusive disease-immunodeficiency syndrome6Jan 12, 2017
    Hereditary Paraganglioma-Pheochromocytoma Syndromes6Jan 8, 2013
    Hereditary diffuse leukoencephalopathy with spheroids43Dec 18, 2014
    Hereditary factor IX deficiency disease2Jun 5, 2014
    Hereditary factor VIII deficiency disease4Mar 26, 2013
    Hereditary fructosuria7Oct 7, 2015
    Hereditary insensitivity to pain with anhidrosis8Apr 30, 2013
    Hereditary leiomyomatosis and renal cell cancer3Aug 20, 2015
    Hereditary liability to pressure palsies2Apr 30, 2013
    Hereditary pancreatitis26Jul 9, 2020
    Hereditary sensory and autonomic neuropathy type IIA11Apr 30, 2013
    Hereditary spastic paraplegia 391Jul 28, 2014
    Hereditary spastic paraplegia 3A12Apr 30, 2013
    Hereditary spastic paraplegia 84Apr 30, 2013
    Hermansky-Pudlak syndrome 128Dec 11, 2014
    Hermansky-Pudlak syndrome 25Jan 8, 2013
    Hermansky-Pudlak syndrome 37Jan 8, 2013
    Hermansky-Pudlak syndrome 410Jan 8, 2013
    Hermansky-Pudlak syndrome 57Jan 8, 2013
    Hermansky-Pudlak syndrome 62Mar 26, 2013
    Hermansky-Pudlak syndrome 71Jan 8, 2013
    Hermansky-Pudlak syndrome 81Jan 8, 2013
    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 1, autosomal dominant5Apr 3, 2020
    Hyper-IgM syndrome type 12May 12, 2020
    Hyperekplexia 123Apr 30, 2013
    Hyperekplexia 22Apr 30, 2013
    Hyperekplexia 310Apr 30, 2013
    Hypermanganesemia with dystonia 115Feb 9, 2017
    Hypermanganesemia with dystonia 28Mar 13, 2017
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome8Jun 17, 2020
    Hyperphosphatemic familial tumoral calcinosis 13Jun 26, 2017
    Hypochondroplasia20Apr 30, 2013
    Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1May 13, 2016
    Hypokalemic periodic paralysis 113Aug 7, 2014
    Hypokalemic periodic paralysis, type 23Aug 7, 2014
    Hypomyelinating leukodystrophy 717Mar 26, 2013
    Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism8Jan 8, 2013
    Hypomyelination and Congenital Cataract4Jan 27, 2021
    Hypophosphatasia8Feb 4, 2016
    Hypophosphatemic rickets, X-linked recessive2Sep 25, 2014
    Idiopathic Pulmonary Fibrosis13Jan 8, 2013
    Idiopathic basal ganglia calcification 12Apr 30, 2013
    Indifference to pain, congenital, autosomal recessive1Feb 19, 2015
    Infantile convulsions and choreoathetosis1Nov 6, 2017
    Infantile cortical hyperostosis1Nov 29, 2012
    Infantile onset spinocerebellar ataxia3Jan 8, 2013
    Infantile-onset ascending hereditary spastic paralysis9Apr 30, 2013
    Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1Mar 26, 2013
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies7Sep 8, 2016
    Isolated sulfite oxidase deficiency6Jun 27, 2017
    Jakob-Creutzfeldt disease3Feb 22, 2021
    Jervell and Lange-Nielsen syndrome 11Nov 20, 2014
    Joubert syndrome2Mar 26, 2013
    Joubert syndrome 131Mar 26, 2013
    Joubert syndrome 176Mar 26, 2013
    Joubert syndrome 21Mar 26, 2013
    Junctional epidermolysis bullosa gravis of Herlitz7Apr 30, 2013
    Juvenile primary lateral sclerosis4Apr 30, 2013
    KBG syndrome1Dec 1, 2017
    Kartagener syndrome58Apr 13, 2016
    Kearns Sayre syndrome1Oct 17, 2019
    Kennedy disease4Jan 26, 2017
    Kennedy disease)1Sep 3, 2014
    Kindler's syndrome25Jan 7, 2016
    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
    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's optic atrophy36Apr 30, 2013
    Legius syndrome4Mar 26, 2013
    Leigh syndrome37Sep 8, 2014
    Lenz microphthalmia syndrome1Oct 2, 2014
    Leprechaunism syndrome2Mar 6, 2017
    Leukodystrophy, hypomyelinating, 22Jun 6, 2017
    Leukodystrophy, hypomyelinating, 632Jul 5, 2016
    Leukoencephalopathy with ataxia39Nov 9, 2015
    Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3Jan 8, 2013
    Leukoencephalopathy with vanishing white matter10Oct 17, 2019
    Limb-girdle muscular dystrophy, type 2A5Jan 8, 2013
    Limb-girdle muscular dystrophy, type 2L4Jan 8, 2013
    Linear skin defects with multiple congenital anomalies 13Jan 8, 2013
    Lipid proteinosis6Feb 24, 2016
    Lissencephaly 34Dec 4, 2015
    Lissencephaly due to LIS1 mutation8Dec 11, 2014
    Lowe syndrome8Sep 25, 2014
    Lysinuric protein intolerance4Dec 11, 2019
    Lysosomal acid lipase deficiency2Sep 1, 2016
    MERRF syndrome5Jan 28, 2021
    METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION4Feb 12, 2018
    MYH-associated polyposis12Dec 13, 2019
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss16Jul 16, 2015
    Majeed syndrome6Mar 26, 2013
    Maple syrup urine disease4Apr 30, 2013
    Maple syrup urine disease, type 31Apr 7, 2014
    Maternal riboflavin deficiency1Sep 29, 2015
    Maturity-onset diabetes of the young, type 21Jan 8, 2013
    McCune-Albright syndrome9Sep 30, 2015
    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
    Mental retardation, autosomal dominant 14Jul 21, 2016
    Mental retardation, autosomal dominant 151May 12, 2016
    Mental retardation, autosomal dominant 315Jan 27, 2017
    Mental retardation, autosomal dominant 357Jul 15, 2020
    Mental retardation, autosomal dominant 429Jan 15, 2021
    Mental retardation, autosomal dominant 447Mar 27, 2017
    Mental retardation, autosomal dominant 71Dec 24, 2015
    Merosin deficient congenital muscular dystrophy5Nov 29, 2012
    Metachromatic leukodystrophy15Jun 22, 2017
    Metaphyseal chondrodysplasia, McKusick type1Nov 29, 2012
    Methylmalonic acidemia with homocystinuria cblD7Dec 1, 2016
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency31Dec 1, 2016
    Methylmalonyl-CoA epimerase deficiency3Jan 7, 2016
    Microcephalic osteodysplastic dysplasia, Saul-Wilson type2Apr 17, 2020
    Microcephaly, normal intelligence and immunodeficiency13Feb 2, 2017
    Mirage syndrome4Jan 8, 2021
    Mirror movements 113Jan 6, 2015
    Mirror movements 24Jan 6, 2015
    Mitochondrial DNA depletion syndrome 1 (MNGIE type)87Jan 14, 2016
    Mitochondrial DNA depletion syndrome 232Jan 8, 2013
    Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1Jan 8, 2013
    Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Jan 8, 2013
    Mitochondrial diseases13Apr 30, 2013
    Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2Sep 12, 2019
    Miyoshi muscular dystrophy 31Jan 8, 2013
    Mucolipidosis type II91Apr 30, 2013
    Mucolipidosis type III gamma17Mar 26, 2013
    Mucolipidosis type IV27Jul 30, 2015
    Mucopolysaccharidosis18Oct 17, 2019
    Mucopolysaccharidosis type 118Feb 11, 2016
    Mucopolysaccharidosis, MPS-II4Dec 4, 2019
    Mucopolysaccharidosis, MPS-III-A6Apr 30, 2013
    Mucopolysaccharidosis, MPS-IV-A3Mar 24, 2016
    Multiple Epiphyseal Dysplasia, Dominant1Apr 30, 2013
    Multiple cutaneous and mucosal venous malformations2Jan 8, 2013
    Multiple epiphyseal dysplasia 110Apr 30, 2013
    Multiple epiphyseal dysplasia type 52Apr 30, 2013
    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 31Jan 8, 2013
    Myofibrillar myopathy, BAG3-related1Jan 8, 2013
    Myofibrillar myopathy, ZASP-related1Mar 26, 2013
    Myopathy with lactic acidosis, hereditary2Mar 3, 2016
    Myopathy, distal, 128Mar 12, 2015
    Myopathy, early-onset, with fatal cardiomyopathy2Nov 29, 2012
    Myopathy, isolated mitochondrial, autosomal dominant2Jul 1, 2015
    Myopathy, myofibrillar, 9, with early respiratory failure8Jun 2, 2020
    Myostatin-related muscle hypertrophy3Apr 30, 2013
    Myotonia congenita27Aug 6, 2015
    Navajo neurohepatopathy20Apr 30, 2013
    Naxos disease2Jan 8, 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 intrahepatic cholestasis caused by citrin deficiency10Mar 26, 2013
    Nephronophthisis19Feb 10, 2016
    Nephropathic cystinosis7Apr 30, 2013
    Nephrotic syndrome type 141Jan 13, 2021
    Nephrotic syndrome, type 911Jun 7, 2016
    Neuroblastoma 38Apr 30, 2013
    Neurodegeneration with brain iron accumulation 44May 29, 2014
    Neuromuscular disease19Apr 7, 2014
    Neuronal ceroid lipofuscinosis 12Apr 30, 2013
    Neuronal ceroid lipofuscinosis 32Apr 30, 2013
    Neuronal ceroid lipofuscinosis 52Apr 30, 2013
    Neuronal ceroid lipofuscinosis 63Apr 30, 2013
    Neuronal ceroid lipofuscinosis 72Apr 30, 2013
    Neuropathy, hereditary motor and sensory, Russe type1Aug 20, 2015
    Neuropathy, hereditary sensory and autonomic, type 1A4Mar 26, 2013
    Neuropathy, hereditary sensory and autonomic, type VII2Nov 9, 2017
    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
    Oculofaciocardiodental syndrome1Oct 2, 2014
    Ohdo syndrome, X-linked3Aug 11, 2016
    Optic atrophy 33Jan 8, 2013
    Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Jan 8, 2013
    Orofaciodigital syndrome I118Aug 4, 2016
    Orthostatic hypotension 113Apr 13, 2016
    Pachyonychia congenita 21Jul 25, 2014
    Pachyonychia congenita 35Jul 25, 2014
    Pallister-Hall syndrome30Nov 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
    Parkinson disease 24Mar 26, 2013
    Parkinson disease 8, autosomal dominant142Dec 11, 2014
    Paroxysmal nocturnal hemoglobinuria 11Mar 26, 2013
    Paroxysmal nonkinesigenic dyskinesia 13Oct 17, 2019
    Peeling skin syndrome 22Oct 13, 2016
    Pelizaeus-Merzbacher disease3Dec 26, 2019
    Pendred syndrome4Jun 3, 2014
    Permanent neonatal diabetes mellitus63Aug 7, 2017
    Peroxisome biogenesis disorders4Jan 27, 2021
    Perry syndrome9Sep 29, 2016
    Peters plus syndrome3Jan 8, 2013
    Phenylketonuria7Oct 20, 2016
    Phytanic acid storage disease2Jan 8, 2013
    Pigmented nodular adrenocortical disease, primary, 11Mar 26, 2013
    Pituitary adenoma, growth hormone-secreting, 22Jun 16, 2017
    Pituitary dependent hypercortisolism1Jan 8, 2013
    Poikiloderma with neutropenia23Jun 26, 2017
    Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis6May 5, 2016
    Polyarteritis nodosa, childhoood-onset7Sep 12, 2019
    Polycystic kidney disease, adult type1Jun 11, 2015
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 19Mar 12, 2015
    Polymicrogyria, asymmetric1Dec 4, 2015
    Pontocerebellar hypoplasia type 2A1Jan 8, 2013
    Pontocerebellar hypoplasia type 2B1Jan 8, 2013
    Pontocerebellar hypoplasia type 2C1Jan 8, 2013
    Pontocerebellar hypoplasia type 43Jan 8, 2013
    Pontocerebellar hypoplasia, type 1b3Apr 28, 2014
    Potocki-Lupski syndrome1Jun 14, 2017
    Primary autosomal recessive microcephaly 17Mar 26, 2013
    Primary autosomal recessive microcephaly 318Jan 8, 2013
    Primary autosomal recessive microcephaly 5101Mar 26, 2013
    Primary autosomal recessive microcephaly 611Jan 8, 2013
    Primary autosomal recessive microcephaly 79Jan 8, 2013
    Primary erythromelalgia16Mar 23, 2020
    Primary familial polycythemia due to EPO receptor mutation5Nov 14, 2016
    Primary hyperoxaluria, type I13Jul 24, 2014
    Primary hyperoxaluria, type II4Mar 26, 2013
    Primary hyperoxaluria, type III2Jul 31, 2015
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Jan 8, 2013
    Progressive myoclonus epilepsy with ataxia3Mar 26, 2013
    Progressive osseous heteroplasia1Jan 25, 2017
    Prolidase deficiency4Apr 6, 2015
    Propionic acidemia21Jan 8, 2013
    Proteus syndrome1Nov 29, 2012
    Protoporphyria, erythropoietic, 11Nov 29, 2012
    Protoporphyria, erythropoietic, X-linked3Mar 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
    Pyruvate carboxylase deficiency16Apr 30, 2013
    RRM2B-related mitochondrial disease36May 29, 2014
    Radial aplasia-thrombocytopenia syndrome5Dec 8, 2016
    Rahman syndrome17Jan 12, 2021
    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
    Robinow syndrome, autosomal dominant 14Oct 6, 2014
    Robinow syndrome, autosomal dominant 28Jul 30, 2015
    SHORT syndrome7Apr 7, 2014
    Schwannomatosis 11Dec 18, 2017
    Sea-blue histiocyte syndrome1Apr 7, 2014
    Seizures, benign familial infantile, 21Nov 6, 2017
    Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome2Jan 8, 2013
    Severe congenital neutropenia 4, autosomal recessive6Jan 18, 2015
    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
    Spastic paraplegia 11, autosomal recessive98Mar 26, 2013
    Spastic paraplegia 4, autosomal dominant2Aug 26, 2019
    Spastic paraplegia 77, autosomal recessive1Jan 24, 2019
    Speech-language disorder 128Mar 2, 2016
    Spermatogenic failure 72Jan 8, 2013
    Spherocytosis type 56May 29, 2014
    Sphingomyelin/cholesterol lipidosis13Jun 18, 2015
    Spinal muscular atrophy, X-linked 23Jan 8, 2013
    Spinal muscular atrophy, jokela type1Jul 1, 2015
    Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1Jan 31, 2018
    Spinocerebellar Ataxia Type 151Jun 13, 2014
    Spinocerebellar ataxia 362Apr 2, 2014
    Spinocerebellar ataxia 383Sep 12, 2019
    Spinocerebellar ataxia type 106Jan 8, 2013
    Spinocerebellar ataxia type 113Mar 26, 2013
    Spinocerebellar ataxia type 1431May 17, 2020
    Spinocerebellar ataxia type 22Aug 22, 2019
    Spinocerebellar ataxia type 2812Nov 29, 2012
    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 related1Apr 30, 2013
    Spondylometaphyseal dysplasia - Sutcliffe type6May 29, 2020
    Squalene synthase deficiency1Apr 16, 2020
    Steinert myotonic dystrophy syndrome3Apr 30, 2013
    Stickler syndrome type 12Oct 30, 2014
    Stickler syndrome, type 41Oct 30, 2014
    Stickler syndrome, type 51Oct 30, 2014
    Syndromic X-linked intellectual disability Snyder type6Mar 5, 2020
    Terminal osseous dysplasia1Apr 30, 2013
    Thanatophoric dysplasia type 113Apr 30, 2013
    Thanatophoric dysplasia, type 21Apr 30, 2013
    Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis2Oct 1, 2014
    Thrombophilia due to thrombin defect3Aug 21, 2014
    Thyrotoxic periodic paralysis, susceptibility to, 19Aug 7, 2014
    Tibial muscular dystrophy8May 28, 2020
    Timothy syndrome4Jul 16, 2015
    Tourette syndrome2Jan 8, 2013
    Townes-Brocks syndrome 12Jan 14, 2016
    Transcription level of plasminogen activator inhibitor 11Apr 4, 2017
    Transient neonatal diabetes mellitus 32Jan 8, 2013
    Trichorhinophalangeal dysplasia type I39Jan 24, 2017
    Trimethylaminuria6Nov 3, 2015
    Tuberous sclerosis 25Sep 17, 2015
    Tyrosinase-negative oculocutaneous albinism1Apr 30, 2013
    Tyrosinemia type I9Mar 26, 2013
    UDPglucose-4-epimerase deficiency9Jan 8, 2013
    Unverricht-Lundborg syndrome14Nov 25, 2014
    Urofacial syndrome 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
    Variegate porphyria1Jan 2, 2020
    Ventricular tachycardia, catecholaminergic polymorphic, 24Oct 13, 2016
    Ventricular tachycardia, catecholaminergic polymorphic, 42Mar 6, 2014
    Very long chain acyl-CoA dehydrogenase deficiency14Jan 8, 2013
    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 syndrome7Jan 8, 2013
    Wilms tumor 13Jan 22, 2021
    Wilson disease3Jul 28, 2016
    X-linked chondrodysplasia punctata 16Jan 8, 2013
    X-linked dystonia-parkinsonism1Jan 8, 2013
    X-linked mental retardation with marfanoid habitus syndrome1Jan 8, 2013
    X-linked severe combined immunodeficiency5Apr 14, 2016
    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 Thalassemia42May 14, 2015
    not provided3Apr 7, 2014
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