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Equipe Genetique des Anomalies du Developpement (Université de Bourgogne), GADteam

General information

Equipe Genetique des Anomalies du Developpement, GADteam
Université de Bourgogne
Dijon
France - 21000

Organization ID: 506039

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1376

Gene

GeneSubmissionsLast Updated
ABCA121Feb 6, 2018
ABCC92Jul 3, 2017
ABHD122Jul 3, 2017
ACADM2Jun 14, 2021
ACE1Feb 6, 2018
ACTB3Feb 24, 2023
ACTG21Apr 26, 2017
ACTL6B1Jun 14, 2021
ADGRL110Aug 10, 2022
ADGRL1-AS19Aug 10, 2022
ADGRV11Oct 17, 2019
ADNP3Jun 14, 2021
AFF43Apr 26, 2023
AFG2A1Feb 15, 2019
AFG3L21Oct 17, 2019
AHDC15Oct 17, 2019
AIFM11Apr 26, 2023
AIMP11Jun 14, 2021
AKT31Jan 10, 2021
ALDH18A11Feb 6, 2018
ALDH7A11Oct 29, 2021
ALG12Jun 14, 2021
ALG32Jun 14, 2021
ALMS14Feb 6, 2018
ALX31Feb 6, 2018
AMER11Jun 14, 2021
AMFR1May 15, 2019
AMHR22Sep 30, 2022
ANKRD1114Apr 26, 2023
ANO102Dec 26, 2021
ANO71May 15, 2019
AP3B22Apr 26, 2017
AP4S11Oct 29, 2021
APC1Nov 26, 2018
APOB1May 15, 2019
ARCN11Apr 26, 2023
ARFGEF110Feb 4, 2021
ARHGEF261May 15, 2019
ARHGEF92Jul 3, 2017
ARID1A4Apr 26, 2023
ARID1B6Oct 17, 2019
ARID21Jun 14, 2021
ARID5B1Sep 23, 2022
ARSA2Oct 29, 2021
ARX2Jun 14, 2021
ASCC12Feb 24, 2023
ASPM2Jun 14, 2021
ASXL15Apr 26, 2023
ASXL22Feb 15, 2019
ASXL32Oct 29, 2021
ATIC2Apr 26, 2017
ATL12Jun 14, 2021
ATP1A12May 15, 2019
ATP1A1-AS11May 15, 2019
ATP6V0C1Apr 25, 2023
ATP6V1A1Jun 14, 2021
ATRIP1Feb 6, 2018
ATRIP-TREX11Feb 6, 2018
ATRX3Jun 14, 2021
ATXN2L1May 15, 2019
AURKC2Sep 30, 2022
AUTS23Apr 26, 2023
B3GLCT2May 15, 2019
BAZ2B1Feb 22, 2023
BCL11A4May 15, 2019
BCL11B1Jun 14, 2021
BEGAIN1May 15, 2019
BICRA1Oct 29, 2021
BRAF4Feb 24, 2023
BRAT15Jun 14, 2021
BRCA12Oct 17, 2019
BRCA28Oct 17, 2019
BRD21Feb 24, 2023
BRD41Feb 22, 2023
BRPF12Jun 14, 2021
BSCL21Feb 15, 2019
C12orf601Oct 29, 2021
CACNA1A3Apr 26, 2023
CACNA1E1Oct 29, 2021
CACNA1G1Apr 26, 2023
CACNA1S1Nov 26, 2018
CAMK2A1Feb 15, 2019
CAMTA12Oct 20, 2020
CASK2Sep 23, 2022
CAV31Nov 26, 2018
CCND21Feb 15, 2019
CCNH1Oct 29, 2021
CD1512Apr 11, 2023
CDAN12Feb 27, 2022
CDC421Feb 15, 2019
CDC42BPB3Feb 22, 2023
CDH51May 15, 2019
CDK102Jun 14, 2021
CDK136Oct 29, 2021
CDK81Oct 20, 2020
CDKL52Oct 29, 2021
CEP552Apr 11, 2023
CERS21May 15, 2019
CFTR6Jun 14, 2021
CFTR-AS11Oct 17, 2019
CHAMP11Oct 17, 2019
CHD21Oct 21, 2020
CHD31May 15, 2019
CHD73Apr 26, 2023
CHD84Jun 14, 2021
CIC1May 15, 2019
CIT1May 15, 2019
CLCN12Oct 29, 2021
CLCN41Oct 21, 2022
CLDN111May 15, 2019
CLDN92Oct 29, 2021
CLN32Apr 26, 2017
CLPB2Feb 27, 2022
CNGA31Oct 21, 2020
CNOT13Jun 14, 2021
CNP1May 15, 2019
COG71Oct 17, 2019
COL12A11Jun 14, 2021
COL1A11Apr 26, 2023
COL1A22Feb 24, 2023
COL2A13Jun 14, 2021
COL3A11Feb 15, 2019
COL4A14Feb 24, 2023
COL4A31Oct 20, 2020
COL4A42Oct 29, 2021
COL4A53Apr 26, 2023
COL6A11Feb 6, 2018
COL6A31May 15, 2019
COQ8A4Apr 26, 2017
CPEB1-AS12Apr 26, 2017
CRAT1Feb 15, 2019
CREBBP9Feb 24, 2023
CRYAA1Oct 21, 2020
CSNK2A12Feb 6, 2018
CSNK2B1Feb 22, 2023
CSPP11Feb 24, 2023
CTNNB11Apr 26, 2017
CUL33Feb 22, 2023
CUL4B2Oct 26, 2017
CUX11Feb 24, 2023
CYFIP22Oct 17, 2019
CYP21A21Nov 26, 2018
CYP2C92Oct 21, 2020
CYP4F222Apr 11, 2023
DDX3X9Oct 29, 2021
DEPDC53Jun 14, 2021
DES1Nov 26, 2018
DHCR73Oct 29, 2021
DKK31May 15, 2019
DLG44Oct 29, 2021
DLL13Feb 24, 2023
DLL31Feb 6, 2018
DNAH116Apr 26, 2023
DNAJB111Jun 14, 2021
DNM11Oct 17, 2019
DNM1L1Apr 26, 2017
DNMT3A1Feb 6, 2018
DOCK61Oct 21, 2020
DPH11Feb 6, 2018
DSC21Nov 26, 2018
DSCAML11May 15, 2019
DSE2Dec 2, 2020
DSG24Oct 17, 2019
DSG2-AS11Oct 17, 2019
DSP2May 15, 2019
DSP-AS11Nov 26, 2018
DUSP293Feb 24, 2023
DYM1Feb 15, 2019
DYM-AS11Feb 15, 2019
DYNC1H15Apr 26, 2023
DYNC2H14Feb 24, 2023
DYRK1A7Oct 29, 2021
DYSF2Feb 6, 2018
EBF33Oct 29, 2021
EEF1A22Dec 26, 2021
EFEMP21Feb 24, 2023
EFNB11Feb 6, 2018
EFTUD21Oct 29, 2021
EHMT15May 15, 2019
EIF2S31Sep 24, 2019
EIF3F1Oct 29, 2021
EMILIN31May 15, 2019
ENG1Nov 26, 2018
EOGT1Feb 27, 2022
EP3003Feb 15, 2019
EPHB41Apr 26, 2023
ERCC22Feb 6, 2018
EXOSC91Feb 27, 2022
EYA11Feb 24, 2023
EZH21Oct 29, 2021
F111Oct 17, 2019
F11-AS11Oct 17, 2019
FAM111A1Apr 26, 2023
FAM83H1May 15, 2019
FANCA1Oct 29, 2021
FBN11Oct 27, 2022
FBN21May 15, 2019
FBRSL12Feb 22, 2023
FBXO111May 15, 2019
FERMT11Feb 16, 2022
FGD11Sep 23, 2022
FGF81Feb 24, 2023
FGFR11Jun 14, 2021
FGFR22Feb 6, 2018
FGFR33Apr 26, 2023
FIBP1Apr 8, 2015
FKBP141Dec 26, 2021
FKBP14-AS11Dec 26, 2021
FKBP81May 15, 2019
FKRP1Jun 14, 2021
FLCN2Nov 26, 2018
FLNA2Apr 26, 2023
FLNB2Feb 6, 2018
FLT41Feb 24, 2023
FOXC11Feb 15, 2019
FOXF11Oct 29, 2021
FOXG13Apr 26, 2023
FOXL21Feb 6, 2018
FOXP11Feb 6, 2018
FOXP31Feb 15, 2019
FPGT-TNNI3K1Apr 26, 2017
FUT81Oct 20, 2020
GAA1Apr 26, 2023
GABRA12May 15, 2019
GABRB31Feb 27, 2022
GATAD2B4Sep 23, 2022
GBA12Apr 26, 2023
GCH11Nov 26, 2018
GDF61Oct 21, 2022
GFER2Apr 26, 2017
GJB23Oct 29, 2021
GLI21Apr 26, 2021
GLMN1Feb 6, 2018
GLS1Apr 26, 2023
GLT8D21May 15, 2019
GNA112Jun 14, 2021
GNAI11Jun 14, 2021
GNAO13Apr 26, 2023
GNAQ4Jun 14, 2021
GNB22Feb 24, 2023
GPC33Oct 27, 2022
GPD1L1Nov 26, 2018
GPHN1Feb 22, 2023
GPR1431Oct 29, 2021
GREB1L3Feb 24, 2023
GRHL31Oct 26, 2017
GRIA21Feb 22, 2023
GRIN11Jun 14, 2021
GRIN2B4Feb 24, 2023
GUSB2Feb 24, 2023
H1-41Oct 17, 2019
HBA-LCR1Oct 29, 2021
HCN12Oct 29, 2021
HDAC81Feb 6, 2018
HDLBP1May 15, 2019
HECW21Feb 15, 2019
HES71Feb 6, 2018
HEXA1Feb 6, 2018
HFE1Oct 17, 2019
HIVEP21Feb 6, 2018
HMBS1Nov 26, 2018
HNRNPK2Jun 14, 2021
HNRNPK-AS11Jun 14, 2021
HNRNPU2Jun 14, 2021
HNRNPUL2-BSCL21Feb 15, 2019
HPDL2Feb 22, 2023
HPS31Apr 26, 2017
HRAS2Feb 24, 2023
HSD17B101Oct 29, 2021
HUWE11Oct 17, 2019
IDS1Nov 26, 2018
IDUA2Jun 14, 2021
IFT1221Oct 21, 2020
IGF1R3Feb 24, 2023
INF22Oct 29, 2021
IQSEC21Jul 3, 2017
IRAK1BP11Jun 14, 2021
IRF2BPL1Jun 14, 2021
IRF62Feb 6, 2018
ITPA1Jun 14, 2021
ITPR11Oct 29, 2021
ITSN18Aug 23, 2021
JAM31Oct 17, 2019
JARID21Feb 22, 2023
JMJD1C1Feb 22, 2023
KANSL12Jul 3, 2017
KAT6A3Jun 14, 2021
KAT6B4Feb 24, 2023
KAT71Feb 24, 2023
KCNA21Apr 26, 2017
KCNB14Apr 26, 2023
KCND31Oct 17, 2019
KCNE21Nov 26, 2018
KCNH11Feb 6, 2018
KCNN21Feb 22, 2023
KCNQ14Feb 15, 2019
KCNQ1-AS12Nov 26, 2018
KCNQ24Jun 14, 2021
KCNQ32Jun 17, 2019
KCNT13Oct 29, 2021
KDM5C5Oct 29, 2021
KDM6A1Feb 6, 2018
KIAA05861Apr 26, 2023
KIAA08252Apr 26, 2023
KIF112Oct 21, 2020
KIF1A3Apr 26, 2023
KIF5A1Jun 14, 2021
KLHL74Jul 18, 2017
KMT2A6Jun 14, 2021
KMT2D7Feb 24, 2023
KMT2E2Feb 24, 2023
KMT5B3Jun 14, 2021
KRAS2Jun 14, 2021
L1CAM1Feb 24, 2023
LAMA22Oct 27, 2022
LARP77Oct 29, 2021
LCT2Apr 11, 2023
LEPR1Feb 15, 2019
LHCGR2Oct 17, 2019
LINS12Feb 24, 2023
LMBRD22Feb 22, 2023
LMNA2Nov 26, 2018
LMNB11Feb 22, 2023
LMX1B1Apr 26, 2017
LOC1019270551Feb 27, 2022
LOC1019270781Feb 22, 2023
LOC1019275211Feb 24, 2023
LOC1053715661Feb 6, 2018
LOC1053727911Nov 26, 2018
LOC1060501021Nov 26, 2018
LOC1066279811Apr 26, 2023
LOC1067808001Nov 26, 2018
LOC1101212692Nov 26, 2018
LOC1116744721Nov 26, 2018
LOC1116744751Nov 26, 2018
LOC1125434691May 15, 2019
LOC1138395161Oct 17, 2019
LOC1148278501Nov 26, 2018
LOC1217406381Feb 6, 2018
LOC1268064621Jun 14, 2021
LOC1268067981Feb 24, 2023
LOC1268068781Jul 3, 2017
LOC1268073221Feb 15, 2019
LOC1268074531Apr 26, 2023
LOC1268596901Jun 14, 2021
LOC1268598271Jun 14, 2021
LOC1268599611Apr 26, 2023
LOC1268605491Apr 26, 2017
LOC1268612581Feb 27, 2022
LOC1268618981Oct 20, 2020
LOC1268622451Jun 14, 2021
LOC1268624791May 15, 2019
LOC1268625711Oct 26, 2017
LOC1268626034Feb 15, 2023
LOC1299306681Feb 24, 2023
LOC1299340691Apr 26, 2017
LOC1299350267Aug 27, 2019
LOC1299948263Feb 27, 2022
LOC1299970351Dec 2, 2020
LOC1300057401Apr 26, 2023
LOC1300067651Oct 29, 2021
LOC1300573521Jun 14, 2021
LOC1300582031Apr 26, 2017
LOC1300644171Feb 6, 2018
LOC1300653451Feb 15, 2019
LOC1320904501Oct 29, 2021
LONP12Oct 17, 2019
LRIG21Feb 15, 2019
LRP52Apr 11, 2023
LRRC531Apr 26, 2017
LRRC562Feb 24, 2023
LSS3Sep 30, 2022
LZTR12Feb 24, 2023
MAB21L11Apr 26, 2017
MAN2B14Feb 6, 2018
MAP2K11Oct 17, 2019
MAPK8IP32Feb 22, 2023
MC4R2Oct 29, 2021
MEA13Jun 14, 2021
MECP25Oct 29, 2021
MED121Apr 26, 2017
MED131Apr 26, 2023
MED13L10Apr 26, 2023
MED231Feb 6, 2018
MEF2C2Sep 23, 2022
MFF-DT1Oct 20, 2020
MID11Oct 29, 2021
MIR302CHG3Oct 29, 2021
MITF1Jul 3, 2017
MLH31Nov 26, 2018
MN11Feb 22, 2023
MRE111Apr 26, 2017
MRPS222Feb 24, 2023
MSL311Oct 17, 2019
MT-ATP62Apr 26, 2023
MT-ND11May 15, 2019
MT-ND41May 15, 2019
MT-ND62May 15, 2019
MT-RNR12May 15, 2019
MT-TS11May 15, 2019
MTM12Feb 27, 2022
MTOR12Feb 24, 2023
MTREX1May 15, 2019
MUSK2Feb 6, 2018
MVP-DT4Feb 27, 2022
MYBPC35Oct 17, 2019
MYCN1Feb 24, 2023
MYCNOS1Feb 24, 2023
MYH72Oct 20, 2020
MYL22Nov 26, 2018
MYL31Nov 26, 2018
MYLK2Apr 26, 2023
MYO15A1Feb 6, 2018
MYO61Oct 29, 2021
MYRF1Feb 27, 2022
MYT1L1Feb 15, 2019
NAA102Feb 6, 2018
NALCN1Jun 14, 2021
NBEA2Jun 14, 2021
NCSTN1Feb 6, 2018
NEB2Feb 27, 2022
NEFL1Oct 17, 2019
NEK82Apr 26, 2023
NEU31May 15, 2019
NEXMIF1Oct 26, 2017
NF11Feb 15, 2019
NF21May 15, 2019
NFASC1Feb 22, 2023
NFIA2Feb 24, 2023
NFIB1May 15, 2019
NFIX6Apr 6, 2020
NGLY12Apr 26, 2017
NHS2Feb 24, 2023
NIPBL5Feb 24, 2023
NLGN31Mar 8, 2023
NOG1Jun 14, 2021
NOTCH31Jun 14, 2021
NPHS11Feb 6, 2018
NPRL21Jun 14, 2021
NPRL31Oct 29, 2021
NR2F16Oct 29, 2021
NR2F1-AS14Oct 29, 2021
NR4A21Feb 22, 2023
NR5A11Apr 26, 2017
NRAS2Feb 24, 2023
NSD18Apr 26, 2023
NSD21Oct 29, 2021
NTMT21May 15, 2019
NUP1884Feb 24, 2023
NUP2052May 15, 2019
OCRL2Feb 15, 2019
OFD19Oct 21, 2020
OPA11Jun 14, 2021
OTC1Oct 17, 2019
OTOA1Oct 29, 2021
OTUD6B1Feb 6, 2018
OTUD7A2Apr 6, 2020
OTX22Feb 15, 2019
OXTR1Nov 26, 2018
PACS11Feb 15, 2019
PACS22Feb 27, 2022
PAEP1Feb 15, 2019
PAFAH1B11Jun 14, 2021
PAH5May 15, 2019
PAK31Jun 14, 2021
PALS11Feb 22, 2023
PANK21Feb 15, 2019
PAX31Jun 14, 2021
PAX91Apr 26, 2017
PBX12Feb 15, 2019
PCDH191Apr 26, 2023
PCGF21Oct 17, 2019
PCSK72Apr 26, 2021
PCSK91Nov 26, 2018
PDCD101Oct 29, 2021
PDHA11Oct 29, 2021
PDZD91Feb 15, 2019
PGAP22Oct 17, 2019
PGAP33Oct 20, 2020
PGM13Feb 24, 2023
PHF62Oct 17, 2019
PHF81Apr 26, 2017
PHIP3Jun 14, 2021
PHKA23Apr 26, 2023
PICALM1May 15, 2019
PIEZO21Apr 26, 2023
PIGA1Feb 27, 2022
PIGN2Feb 27, 2022
PIGQ1Oct 29, 2021
PIK3CA15Jun 14, 2021
PIK3R22Jun 14, 2021
PKD15Apr 26, 2023
PKD1L21May 15, 2019
PKD21Oct 29, 2021
PKHD16Jun 14, 2021
PKP22Oct 17, 2019
PLAG11Jun 14, 2021
PLCB41Jun 14, 2021
PLP12Oct 26, 2017
PMS21Feb 6, 2018
PNPLA62Jun 14, 2021
PNPLA81Feb 27, 2022
PNPO1Feb 15, 2019
POC1A1Apr 26, 2017
POGZ7Oct 29, 2021
POLA11Sep 23, 2022
POLG2Feb 27, 2022
POLGARF2Feb 27, 2022
POLR2A2Apr 26, 2023
POMC2Feb 15, 2019
POMGNT21Jul 3, 2017
PPM1D3Feb 24, 2023
PPP1CB1Oct 17, 2019
PPP2R1A1Apr 26, 2017
PPP2R5C1Apr 26, 2017
PPP2R5D3Jun 14, 2021
PPT13Apr 26, 2017
PROS11Nov 26, 2018
PRPF31Oct 21, 2020
PRPF311Apr 26, 2023
PRRT24Feb 27, 2022
PRRX11Oct 20, 2020
PRUNE11Feb 15, 2019
PSEN11Oct 21, 2020
PTEN3Sep 30, 2022
PTPN1110Apr 26, 2023
PTS2Oct 29, 2021
PUF603Apr 6, 2020
PURA7Sep 23, 2022
PYCR12Oct 17, 2019
PYGL1Oct 17, 2019
QRICH11Jun 14, 2021
RAB33A1Apr 26, 2023
RAB9B2Oct 26, 2017
RAC31Oct 21, 2020
RAD211Feb 6, 2018
RAG11Feb 24, 2023
RALA1Jun 14, 2021
RALGAPB1May 15, 2019
RANBP101May 15, 2019
RAPSN2Apr 26, 2023
RARB1Feb 6, 2018
RASA11Oct 29, 2021
RBM201Oct 21, 2020
RECQL43Feb 6, 2018
REEP11Jul 3, 2017
RET5Feb 15, 2019
RHO1Oct 17, 2019
RHOA3Jun 14, 2021
RIT11Apr 26, 2023
RLIM1Jun 14, 2021
RNASEH2B1Apr 26, 2017
RNF2131Apr 26, 2023
RPGR1Oct 17, 2019
RPS6KA32Nov 26, 2018
RS11Oct 29, 2021
RSPH11Jun 14, 2021
RYR22Oct 20, 2020
SACS3Sep 30, 2022
SAMD91Feb 6, 2018
SARS11Aug 19, 2021
SATB12Feb 27, 2022
SATB24Oct 29, 2021
SCAF42Feb 22, 2023
SCARF21Apr 26, 2023
SCN1A2Oct 17, 2019
SCN2A10Feb 27, 2022
SCN3B1Nov 26, 2018
SCN5A7Nov 26, 2018
SCYL22Feb 24, 2023
SDHB3Nov 26, 2018
SENP61Sep 23, 2022
SET2Apr 26, 2023
SETBP12Mar 11, 2022
SETD1A1Feb 22, 2023
SETD21Jun 14, 2021
SETD55Apr 26, 2023
SGCD2Nov 26, 2018
SGCG2Sep 30, 2022
SH3TC24Oct 17, 2019
SHH1Apr 26, 2017
SHOC21Apr 26, 2017
SIDT11May 15, 2019
SIN3A1Oct 29, 2021
SKI2Feb 15, 2019
SLC12A21Feb 22, 2023
SLC13A53Apr 26, 2017
SLC16A11Oct 17, 2019
SLC16A22Feb 6, 2018
SLC26A11Jun 14, 2021
SLC26A21Feb 24, 2023
SLC26A42Jun 14, 2021
SLC2A12Feb 15, 2019
SLC2A101Oct 20, 2020
SLC5A71Feb 6, 2018
SLC6A14Jun 14, 2021
SLC6A83Oct 29, 2021
SMAD31Jun 14, 2021
SMAD41Feb 6, 2018
SMARCA22Oct 21, 2020
SMARCA41Apr 26, 2017
SMARCB11Feb 6, 2018
SMARCC22Apr 26, 2023
SMARCE12Jun 14, 2021
SMC31Oct 17, 2019
SMO2Feb 24, 2023
SMPD44Feb 22, 2023
SNAP251Jun 14, 2021
SNHG142Feb 6, 2018
SNHG311Feb 6, 2018
SNTA11Nov 26, 2018
SON1Oct 29, 2021
SORD1Jun 14, 2021
SOS14Feb 24, 2023
SOX112Apr 26, 2023
SOX41Feb 22, 2023
SOX53Oct 29, 2021
SOX91Feb 6, 2018
SPAG91May 15, 2019
SPAST2Oct 29, 2021
SPECC1L2Oct 17, 2019
SPECC1L-ADORA2A2Oct 17, 2019
SPEN1Jun 14, 2021
SPG112Jul 3, 2017
SPR1Apr 26, 2017
SPTAN11Sep 23, 2022
SPTBN22Oct 17, 2019
SPTLC11Oct 29, 2021
SRCAP1Feb 6, 2018
SRSF115Feb 15, 2023
SSR41Oct 29, 2021
ST3GAL51Apr 26, 2017
STAG110Apr 13, 2017
STK111May 15, 2019
STON1-GTF2A1L2Oct 17, 2019
STRC1Apr 26, 2023
STX1B1Oct 29, 2021
STXBP11Oct 26, 2017
SUCLA21Apr 26, 2023
SUZ122Feb 22, 2023
SYN13Oct 17, 2019
SYNGAP18Feb 27, 2022
SYNGAP1-AS17Feb 27, 2022
SYT11Feb 22, 2023
TAB21Jun 14, 2021
TAF12May 15, 2019
TAF21Apr 26, 2017
TAOK13Feb 22, 2023
TAOK21Feb 22, 2023
TAPBPL1May 15, 2019
TBL1XR12Jul 3, 2017
TBL1XR1-AS11Jul 3, 2017
TBR135Oct 29, 2021
TBX31Feb 24, 2023
TBX41Oct 20, 2020
TCF203Jun 14, 2021
TCF44Sep 23, 2022
TCF7L21Oct 29, 2021
TET33Feb 22, 2023
TFAP2A1Feb 6, 2018
TFAP2A-AS21Feb 6, 2018
TFE31Oct 29, 2021
TGDS1Oct 20, 2020
TGM14Feb 27, 2022
THOC62Apr 26, 2017
TLK21Oct 17, 2019
TMC12Jun 14, 2021
TMCO11Feb 6, 2018
TMEM14712Oct 28, 2022
TMEM147-AS13Oct 28, 2022
TNNI3K1Apr 26, 2017
TNNT22Nov 26, 2018
TNPO21Oct 29, 2021
TNRC6B1Feb 22, 2023
TOMM702Feb 22, 2023
TOR1A1Feb 6, 2018
TP532Nov 26, 2018
TPCN21May 15, 2019
TRAPPC21Apr 26, 2017
TRAPPC91Apr 26, 2017
TREX11Feb 6, 2018
TRIM371Apr 26, 2017
TRIO1Feb 15, 2019
TRIT12Jul 3, 2017
TRPM11Apr 26, 2023
TRRAP1Dec 26, 2021
TSC11Nov 26, 2018
TSC21Sep 30, 2022
TSEN542Feb 24, 2023
TSPAN71Nov 26, 2018
TSPYL12Dec 2, 2020
TTC21B1Apr 26, 2017
TTC21B-AS11Apr 26, 2017
TTC51Feb 22, 2023
TTN6Feb 27, 2022
TTN-AS14Feb 27, 2022
TTPA1Apr 26, 2017
TUBB4Apr 26, 2023
TUBB2A1Feb 15, 2019
TUBB34Mar 5, 2022
TWIST11Oct 17, 2019
TYR2Apr 26, 2023
UBAP11Oct 17, 2019
UBE3A3Feb 15, 2019
UBE3B1Apr 26, 2017
UQCRC21Feb 15, 2019
USB11Feb 6, 2018
USH2A1Jun 14, 2021
USP72Jun 14, 2021
USP9X1Apr 26, 2023
VCP1Jul 3, 2017
VPS13B14Sep 30, 2022
VWF2Oct 17, 2019
WASHC42Jun 3, 2019
WASHC51Feb 15, 2019
WBP111Oct 29, 2021
WDFY33Feb 22, 2023
WDR262Apr 26, 2023
WDR451Feb 15, 2019
WFS11Jul 3, 2017
WSCD21May 15, 2019
WWOX2Oct 28, 2022
YARS21Apr 26, 2017
YY1AP11Jun 14, 2021
ZBTB183May 15, 2019
ZBTB208Jun 17, 2019
ZBTB461May 15, 2019
ZDHHC92Apr 26, 2023
ZEB23May 15, 2019
ZNF1482Feb 24, 2023
ZNF2927Feb 22, 2023
ZSWIM61Feb 6, 2018

Condition

NameSubmissionsLast Updated
15q11q13 microduplication syndrome1Feb 15, 2019
3-methylglutaconic aciduria, type VIIB2Feb 27, 2022
46,XY sex reversal 31Apr 26, 2017
4p partial monosomy syndrome1Oct 29, 2021
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency2Oct 29, 2021
8q24.3 microdeletion syndrome3Apr 6, 2020
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Apr 26, 2017
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4Oct 17, 2019
AICA-ribosiduria2Apr 26, 2017
ALDH18A1-related de Barsy syndrome1Feb 6, 2018
ALG3-congenital disorder of glycosylation2Jun 14, 2021
Aarskog syndrome1Sep 23, 2022
Abdominal obesity-metabolic syndrome 31Oct 26, 2017
Abnormal brain morphology3Jun 14, 2021
Abnormal brainstem MRI signal intensity1Aug 27, 2019
Abnormal cerebral morphology2Jun 14, 2021
Abnormal facial shape3Sep 27, 2022
Abnormal frontal bone morphology1Apr 26, 2021
Abnormal pyramidal sign1Jun 14, 2021
Abnormality of mouth size1Sep 23, 2022
Absent speech2Sep 27, 2022
Achondroplasia1Feb 24, 2023
Achromatopsia 21Oct 21, 2020
Acne inversa, familial, 11Feb 6, 2018
Acromelic frontonasal dysostosis1Feb 6, 2018
Acute intermittent porphyria1Nov 26, 2018
Adams-Oliver syndrome 21Oct 21, 2020
Adams-Oliver syndrome 41Feb 27, 2022
Aggressive behavior3Aug 27, 2019
Agnathia-otocephaly complex1Oct 20, 2020
Aicardi-Goutieres syndrome 11Feb 6, 2018
Aicardi-Goutieres syndrome 21Apr 26, 2017
Al Kaissi syndrome2Jun 14, 2021
Allan-Herndon-Dudley syndrome2Feb 6, 2018
Alopecia-intellectual disability syndrome 44Sep 30, 2022
Alpha thalassemia-X-linked intellectual disability syndrome2Nov 26, 2018
Alstrom syndrome4Feb 6, 2018
Alveolar capillary dysplasia with pulmonary venous misalignment1Oct 29, 2021
Aminoglycoside-induced deafness2May 15, 2019
Anemia, congenital dyserythropoietic, type 1a2Feb 27, 2022
Angelman syndrome2Feb 6, 2018
Angioosteohypertrophic syndrome1Jun 14, 2021
Aortic aneurysm1Jun 14, 2021
Aortic aneurysm, familial thoracic 72Apr 26, 2023
Aplasia/Hypoplasia of the corpus callosum1Jan 9, 2019
Arrhythmogenic right ventricular dysplasia 104Oct 17, 2019
Arrhythmogenic right ventricular dysplasia 22Oct 20, 2020
Arrhythmogenic right ventricular dysplasia 81Nov 26, 2018
Arrhythmogenic right ventricular dysplasia 92Oct 17, 2019
Arterial tortuosity syndrome1Oct 20, 2020
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum2Feb 24, 2023
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1Apr 26, 2023
Asphyxiating thoracic dystrophy 32Feb 24, 2023
Ataxia-telangiectasia-like disorder 11Apr 26, 2017
Atrial conduction disease1Apr 26, 2017
Attention deficit hyperactivity disorder7Aug 10, 2022
Atypical behavior10Feb 4, 2021
Au-Kline syndrome1Feb 15, 2019
Autism spectrum disorder due to AUTS2 deficiency3Apr 26, 2023
Autism, susceptibility to, 51Oct 29, 2021
Autism, susceptibility to, X-linked 11Mar 8, 2023
Autistic behavior38Aug 10, 2022
Autosomal dominant Alport syndrome1Oct 20, 2020
Autosomal dominant Opitz G/BBB syndrome2Oct 17, 2019
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2Feb 6, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 51Jun 14, 2021
Autosomal dominant nonsyndromic hearing loss 221Oct 29, 2021
Autosomal recessive ataxia due to ubiquinone deficiency4Apr 26, 2017
Autosomal recessive congenital ichthyosis 12Feb 27, 2022
Autosomal recessive congenital ichthyosis 4B1Feb 6, 2018
Autosomal recessive congenital ichthyosis 52Apr 11, 2023
Autosomal recessive cutis laxa type 2B2Oct 17, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2B2Feb 6, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2C2Sep 30, 2022
Autosomal recessive nonsyndromic hearing loss 161Apr 26, 2023
Autosomal recessive nonsyndromic hearing loss 1A1Oct 29, 2021
Autosomal recessive nonsyndromic hearing loss 221Oct 29, 2021
Autosomal recessive nonsyndromic hearing loss 31Feb 6, 2018
Autosomal recessive nonsyndromic hearing loss 42Jun 14, 2021
Autosomal recessive polycystic kidney disease4Feb 6, 2018
Autosomal recessive spinocerebellar ataxia 102Dec 26, 2021
Autosomal recessive spinocerebellar ataxia 122Oct 28, 2022
Axenfeld-Rieger syndrome type 31Feb 15, 2019
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202Oct 29, 2021
Baraitser-Winter syndrome 13Feb 24, 2023
Beck-Fahrner syndrome3Feb 22, 2023
Benign familial hematuria1Oct 29, 2021
Bethlem myopathy 1A1Feb 6, 2018
Birt-Hogg-Dube syndrome2Nov 26, 2018
Blepharophimosis - intellectual disability syndrome1Oct 20, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type3Oct 29, 2021
Blepharophimosis, ptosis, and epicanthus inversus syndrome1Feb 6, 2018
Blue sclerae1Sep 23, 2022
Bohring-Opitz syndrome4Apr 26, 2023
Borjeson-Forssman-Lehmann syndrome2Oct 17, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome6Oct 29, 2021
Brain malformations with or without urinary tract defects1Feb 24, 2023
Brain small vessel disease 1 with or without ocular anomalies2Oct 20, 2020
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome1Feb 22, 2023
Branchiooculofacial syndrome1Feb 6, 2018
Branchiootorenal syndrome 11Feb 24, 2023
Breast-ovarian cancer, familial, susceptibility to, 12Oct 17, 2019
Breast-ovarian cancer, familial, susceptibility to, 28Oct 17, 2019
Brugada syndrome 21Nov 26, 2018
Brugada syndrome 71Nov 26, 2018
CEBALID syndrome12Feb 22, 2023
CHARGE association3Apr 26, 2023
CLOVES syndrome8Jun 14, 2021
CODAS syndrome2Oct 17, 2019
COG7 congenital disorder of glycosylation1Oct 17, 2019
Camptomelic dysplasia1Feb 6, 2018
Capillary malformation2Jun 14, 2021
Capillary malformation-arteriovenous malformation 11Oct 29, 2021
Capillary malformation-arteriovenous malformation 21Apr 26, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome7Apr 26, 2023
Cardiac valvular dysplasia, X-linked1Feb 15, 2019
Cardiac-urogenital syndrome1Feb 27, 2022
Cardiofaciocutaneous syndrome 12Feb 15, 2019
Cardiofaciocutaneous syndrome 31Oct 17, 2019
Cataract 9 multiple types1Oct 21, 2020
Catel-Manzke syndrome1Oct 20, 2020
Cerebellar ataxia1Jun 14, 2021
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2Oct 20, 2020
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Jun 14, 2021
Cerebral cavernous malformation 31Oct 29, 2021
Cerebrooculofacioskeletal syndrome 22Feb 6, 2018
Charcot-Marie-Tooth disease axonal type 2O1Apr 26, 2017
Charcot-Marie-Tooth disease dominant intermediate E1Oct 29, 2021
Charcot-Marie-Tooth disease type 1F1Oct 17, 2019
Charcot-Marie-Tooth disease type 2E1Oct 17, 2019
Charcot-Marie-Tooth disease type 4C4Oct 17, 2019
Charcot-Marie-Tooth disease, dominant intermediate G1Oct 17, 2019
Charcot-Marie-Tooth disease, type IA1Apr 26, 2023
Charlevoix-Saguenay spastic ataxia2Feb 6, 2018
Chilton-Okur-Chung neurodevelopmental syndrome3Feb 22, 2023
Chromosome 1p32-p31 deletion syndrome1Oct 29, 2021
Chromosome 2q32-q33 deletion syndrome3Oct 29, 2021
Chronic diarrhea1Jun 14, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Nov 26, 2018
Cleft palate1Jun 14, 2021
Coffin-Lowry syndrome1Feb 6, 2018
Coffin-Siris syndrome 14Oct 17, 2019
Coffin-Siris syndrome 101Feb 22, 2023
Coffin-Siris syndrome 121Oct 29, 2021
Coffin-Siris syndrome 51Feb 6, 2018
Coffin-Siris syndrome 82Apr 26, 2023
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome3Apr 26, 2023
Cohen syndrome14Sep 30, 2022
Colorectal cancer, hereditary nonpolyposis, type 71Nov 26, 2018
Complex cortical dysplasia with other brain malformations 13Mar 5, 2022
Complex cortical dysplasia with other brain malformations 51Feb 15, 2019
Complex cortical dysplasia with other brain malformations 63Apr 26, 2023
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay2Feb 15, 2019
Congenital anomaly of face1Apr 8, 2015
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2Apr 26, 2017
Congenital cleft nose1Apr 26, 2021
Congenital disorder of deglycosylation2Apr 26, 2017
Congenital disorder of glycosylation with defective fucosylation 11Oct 20, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder4Oct 29, 2021
Congenital ichthyosiform erythroderma2Jun 14, 2021
Congenital lactase deficiency2Apr 11, 2023
Congenital macrodactylia1Jun 14, 2021
Congenital myasthenic syndrome 112Apr 26, 2023
Congenital myasthenic syndrome 201Feb 6, 2018
Congenital ocular coloboma1Apr 8, 2015
Congenital stationary night blindness 1C1Apr 26, 2023
Cornelia de Lange syndrome 14Feb 24, 2023
Cornelia de Lange syndrome 31Oct 17, 2019
Cornelia de Lange syndrome 41Feb 6, 2018
Cornelia de Lange syndrome 51Feb 6, 2018
Corpus callosum, agenesis of1Jun 14, 2021
Cortical dysplasia1Jan 9, 2019
Costello syndrome2Feb 24, 2023
Cowden syndrome 11Sep 30, 2022
Coxopodopatellar syndrome1Oct 20, 2020
Cranioectodermal dysplasia 11Oct 21, 2020
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Feb 6, 2018
Craniofrontonasal syndrome1Feb 6, 2018
Craniosynostosis syndrome1Jun 14, 2021
Creatine transporter deficiency3Oct 29, 2021
Cutis laxa, autosomal recessive, type 1B1Feb 24, 2023
Cystic fibrosis5Oct 17, 2019
DYRK1A-related intellectual disability syndrome6Oct 29, 2021
Deafness, X-linked 51Apr 26, 2023
Deficiency of alpha-mannosidase4Feb 6, 2018
Delayed fine motor development5Aug 27, 2019
Delayed speech and language development12Sep 23, 2022
Demyelinating peripheral neuropathy1Jun 14, 2021
Developmental and epileptic encephalopathy 941Oct 21, 2020
Developmental and epileptic encephalopathy, 116Oct 29, 2021
Developmental and epileptic encephalopathy, 142Oct 29, 2021
Developmental and epileptic encephalopathy, 173Apr 26, 2023
Developmental and epileptic encephalopathy, 191Apr 26, 2017
Developmental and epileptic encephalopathy, 21Apr 6, 2020
Developmental and epileptic encephalopathy, 241Oct 26, 2017
Developmental and epileptic encephalopathy, 253Apr 26, 2017
Developmental and epileptic encephalopathy, 263Apr 26, 2023
Developmental and epileptic encephalopathy, 272Feb 24, 2023
Developmental and epileptic encephalopathy, 311Oct 17, 2019
Developmental and epileptic encephalopathy, 321Apr 26, 2017
Developmental and epileptic encephalopathy, 332Dec 26, 2021
Developmental and epileptic encephalopathy, 41Oct 26, 2017
Developmental and epileptic encephalopathy, 421Mar 6, 2022
Developmental and epileptic encephalopathy, 431Feb 27, 2022
Developmental and epileptic encephalopathy, 51Sep 23, 2022
Developmental and epileptic encephalopathy, 541Feb 6, 2018
Developmental and epileptic encephalopathy, 652Oct 17, 2019
Developmental and epileptic encephalopathy, 661Feb 27, 2022
Developmental and epileptic encephalopathy, 73Oct 20, 2020
Developmental and epileptic encephalopathy, 711Apr 26, 2023
Developmental and epileptic encephalopathy, 771Oct 29, 2021
Developmental and epileptic encephalopathy, 82Jul 3, 2017
Developmental and epileptic encephalopathy, 91Apr 26, 2023
Developmental delay1Oct 20, 2020
Developmental delay with dysmorphic facies and dental anomalies1Feb 19, 2022
Developmental delay with or without dysmorphic facies and autism1Dec 26, 2021
Developmental delay with or without intellectual impairment or behavioral abnormalities2Feb 22, 2023
Developmental delay with short stature, dysmorphic facial features, and sparse hair1Feb 6, 2018
Developmental delay with variable intellectual disability and dysmorphic facies1Feb 22, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities1Oct 21, 2020
Developmental delay with variable neurologic and brain abnormalities1Feb 22, 2023
Dias-Logan syndrome3Feb 15, 2019
Dilated cardiomyopathy 1A2Nov 26, 2018
Dilated cardiomyopathy 1D2Nov 26, 2018
Dilated cardiomyopathy 1DD1Oct 21, 2020
Dilated cardiomyopathy 1I1Nov 26, 2018
Dilated cardiomyopathy 1L2Nov 26, 2018
Distal arthrogryposis1Apr 26, 2017
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Apr 26, 2017
Dyggve-Melchior-Clausen syndrome1Feb 15, 2019
Dysmorphic features1Oct 20, 2020
Dystonia 51Nov 26, 2018
EEG abnormality1Jan 9, 2019
Early-onset generalized limb-onset dystonia1Feb 6, 2018
Early-onset myopathy with fatal cardiomyopathy6Feb 27, 2022
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies2Jun 14, 2021
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type1Dec 26, 2021
Ehlers-Danlos syndrome, type 41Feb 15, 2019
Encephalocraniocutaneous lipomatosis1Jun 14, 2021
Encephalopathy6Jun 14, 2021
Encephalopathy due to GLUT1 deficiency1Apr 26, 2017
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Apr 26, 2017
Epicanthus1Sep 23, 2022
Epidermolysis bullosa simplex 7, with nephropathy and deafness2Apr 11, 2023
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders3Oct 17, 2019
Epilepsy, early-onset, with or without developmental delay1Feb 22, 2023
Epilepsy, familial focal, with variable foci 12Oct 17, 2019
Epilepsy, familial focal, with variable foci 31Oct 29, 2021
Epileptic encephalopathy6Jun 14, 2021
Epileptic spasm2Jun 14, 2021
Episodic kinesigenic dyskinesia 11Jun 14, 2021
Exercise-induced hyperinsulinism1Oct 17, 2019
Exudative vitreoretinopathy 42Apr 11, 2023
FG syndrome 11Apr 26, 2017
FG syndrome 41Sep 23, 2022
Facial asymmetry1Apr 26, 2021
Familial adenomatous polyposis 11Nov 26, 2018
Familial cancer of breast2Oct 17, 2019
Familial isolated deficiency of vitamin E1Apr 26, 2017
Familial multiple nevi flammei2Jun 14, 2021
Fetal akinesia deformation sequence 12Feb 6, 2018
Fetal cystic hygroma3Jun 14, 2021
Fetal growth restriction1Sep 23, 2022
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Apr 26, 2017
Finnish congenital nephrotic syndrome1Feb 6, 2018
Floating-Harbor syndrome1Feb 6, 2018
Focal cortical dysplasia1Aug 27, 2019
Focal segmental glomerulosclerosis 51Oct 17, 2019
Frontorhiny1Feb 6, 2018
Frontotemporal dementia1Oct 21, 2020
GM3 synthase deficiency1Apr 26, 2017
Gait ataxia2Aug 27, 2019
Gait disturbance2Aug 27, 2019
Generalized epilepsy with febrile seizures plus, type 101Oct 29, 2021
Generalized epilepsy with febrile seizures plus, type 21Feb 6, 2018
Generalized epilepsy with febrile seizures plus, type 91Oct 29, 2021
Generalized hypotonia3Jun 14, 2021
Genitopatellar syndrome1Feb 24, 2023
Global developmental delay35Sep 23, 2022
Global developmental delay with or without impaired intellectual development1Feb 24, 2023
Global developmental delay with speech and behavioral abnormalities1Feb 22, 2023
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies2Feb 24, 2023
Glomuvenous malformation1Feb 6, 2018
Glycogen storage disease IXa12Apr 26, 2023
Glycogen storage disease, type II1Apr 26, 2023
Glycogen storage disease, type VI1Oct 17, 2019
Gordon syndrome1Apr 26, 2023
Growth delay due to insulin-like growth factor I resistance1Feb 24, 2023
HSD10 mitochondrial disease1Oct 29, 2021
Hamartoma1Jun 14, 2021
Hamartoma of hypothalamus2Feb 24, 2023
Hearing impairment5Jun 14, 2021
Hearing loss1Aug 17, 2020
Hearing loss, autosomal recessive 1161Oct 29, 2021
Hemangiomatosis1Jun 14, 2021
Hemihypertrophy2Jun 14, 2021
Hemiplegia/hemiparesis1Jun 14, 2021
Hemochromatosis type 11Oct 17, 2019
Hereditary cryohydrocytosis with reduced stomatin1Feb 15, 2019
Hereditary factor XI deficiency disease1Oct 17, 2019
Hereditary lymphedema type I1Feb 24, 2023
Hereditary spastic paraplegia 112Jul 3, 2017
Hereditary spastic paraplegia 171Oct 29, 2021
Hereditary spastic paraplegia 301Apr 26, 2023
Hereditary spastic paraplegia 311Jul 3, 2017
Hereditary spastic paraplegia 3A1Oct 17, 2019
Hereditary spastic paraplegia 42Oct 29, 2021
Hereditary spastic paraplegia 81Feb 15, 2019
Hermansky-Pudlak syndrome 31Apr 26, 2017
Heterotopia, periventricular, X-linked dominant1Apr 26, 2023
High, narrow palate1Sep 23, 2022
Hirschsprung disease, susceptibility to, 11Feb 15, 2019
Hogue-Janssens syndrome 12Oct 21, 2020
Houge-Janssens syndrome 21Apr 26, 2017
Hypercholesterolemia, autosomal dominant, 31Nov 26, 2018
Hyperphosphatasia with intellectual disability syndrome 32Oct 17, 2019
Hyperphosphatasia with intellectual disability syndrome 43Oct 20, 2020
Hypertelorism1Apr 26, 2021
Hypertrichotic osteochondrodysplasia Cantu type2Jul 3, 2017
Hypertrophic cardiomyopathy 12Oct 20, 2020
Hypertrophic cardiomyopathy 102Nov 26, 2018
Hypertrophic cardiomyopathy 81Nov 26, 2018
Hypogonadism with anosmia1Jun 14, 2021
Hypokalemic periodic paralysis, type 11Nov 26, 2018
Hypoplasia of scrotum1Apr 26, 2017
Hypoplasia of the frontal lobes1Aug 27, 2019
Hypoplastic anterior commissure1Jan 9, 2019
Hypoplastic hippocampus1Jan 9, 2019
Hypotonia2Jun 14, 2021
Hypotonia with lactic acidemia and hyperammonemia2Feb 24, 2023
Hypotonia, ataxia, and delayed development syndrome2Oct 29, 2021
Imagawa-Matsumoto syndrome2Feb 22, 2023
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11Jul 3, 2017
Increased nuchal translucency1Jun 14, 2021
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Feb 22, 2023
Infertility associated with multi-tailed spermatozoa and excessive DNA2Sep 30, 2022
Inflexible adherence to routines1Jan 9, 2019
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Feb 15, 2019
Intellectual developmental disorder 611Apr 26, 2023
Intellectual developmental disorder 621Oct 29, 2021
Intellectual developmental disorder with autism and macrocephaly2Oct 17, 2019
Intellectual developmental disorder with dysmorphic facies and ptosis1Feb 6, 2018
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1Feb 6, 2018
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold3Feb 24, 2023
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Oct 20, 2020
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies1Oct 29, 2021
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Feb 22, 2023
Intellectual developmental disorder, autosomal dominant 646Feb 22, 2023
Intellectual developmental disorder, autosomal recessive 671Oct 29, 2021
Intellectual disability73Feb 15, 2023
Intellectual disability, X-linked 11Jul 3, 2017
Intellectual disability, X-linked 1027Oct 29, 2021
Intellectual disability, X-linked 191Nov 26, 2018
Intellectual disability, X-linked 301Jun 14, 2021
Intellectual disability, X-linked 491Oct 21, 2022
Intellectual disability, X-linked 581Nov 26, 2018
Intellectual disability, X-linked 99, syndromic, female-restricted1Apr 26, 2023
Intellectual disability, X-linked syndromic, Turner type1Oct 17, 2019
Intellectual disability, X-linked, syndromic 331Jul 3, 2017
Intellectual disability, X-linked, with or without seizures, arx-related1Nov 26, 2018
Intellectual disability, autosomal dominant 134Apr 26, 2023
Intellectual disability, autosomal dominant 143Apr 26, 2023
Intellectual disability, autosomal dominant 151Feb 6, 2018
Intellectual disability, autosomal dominant 161Apr 26, 2017
Intellectual disability, autosomal dominant 202Sep 23, 2022
Intellectual disability, autosomal dominant 222Feb 15, 2019
Intellectual disability, autosomal dominant 272Apr 26, 2023
Intellectual disability, autosomal dominant 291Oct 29, 2021
Intellectual disability, autosomal dominant 391Feb 15, 2019
Intellectual disability, autosomal dominant 401Oct 17, 2019
Intellectual disability, autosomal dominant 412Jul 3, 2017
Intellectual disability, autosomal dominant 431Feb 6, 2018
Intellectual disability, autosomal dominant 54Feb 27, 2022
Intellectual disability, autosomal dominant 511Feb 15, 2019
Intellectual disability, autosomal dominant 531Feb 15, 2019
Intellectual disability, autosomal dominant 571Oct 17, 2019
Intellectual disability, autosomal dominant 581Apr 26, 2023
Intellectual disability, autosomal dominant 64Feb 24, 2023
Intellectual disability, autosomal dominant 93Apr 26, 2023
Intellectual disability, autosomal recessive 131Apr 26, 2017
Intellectual disability, autosomal recessive 181Feb 6, 2018
Intellectual disability, autosomal recessive 272Feb 24, 2023
Intellectual disability, autosomal recessive 432Jun 3, 2019
Intellectual disability, severe2Sep 27, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency4Apr 26, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome7Oct 29, 2021
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Feb 6, 2018
Interstitial pneumonitis2Jun 14, 2021
Joubert syndrome 211Feb 24, 2023
Juvenile retinoschisis1Oct 29, 2021
KBG syndrome13Apr 26, 2023
Kabuki syndrome 15Feb 24, 2023
Kabuki syndrome 21Feb 6, 2018
Kidney damage1Jun 14, 2021
Kindler syndrome1Feb 16, 2022
Kleefstra syndrome 14Feb 15, 2019
Klippel-Feil syndrome 1, autosomal dominant1Oct 21, 2022
Kohlschutter-Tonz syndrome-like1Feb 27, 2022
Koolen-de Vries syndrome2Jul 3, 2017
LEOPARD syndrome 14Apr 26, 2023
Lamb-Shaffer syndrome3Oct 29, 2021
Language disorder1Apr 6, 2020
Large hands1Apr 8, 2015
Learning disability1Apr 8, 2015
Leber optic atrophy3May 15, 2019
Left ventricular noncompaction 105Oct 17, 2019
Levy-Hollister syndrome1Apr 26, 2017
Leydig cell agenesis2Oct 17, 2019
Li-Fraumeni syndrome 11Feb 6, 2018
Limb myoclonus1Aug 27, 2019
Limbal dermoid1Apr 26, 2021
Linear nevus sebaceous syndrome1Jun 14, 2021
Long QT syndrome 14Feb 15, 2019
Long QT syndrome 121Nov 26, 2018
Long QT syndrome 36Nov 26, 2018
Long QT syndrome 61Nov 26, 2018
Long QT syndrome 91Nov 26, 2018
Low-set ears1Apr 26, 2021
Lowe syndrome2Feb 15, 2019
Lynch syndrome 41Feb 6, 2018
MEHMO syndrome1Sep 24, 2019
MIRAGE syndrome1Feb 6, 2018
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB4Nov 26, 2018
Macrocephaly4Jun 14, 2021
Macrocephaly-autism syndrome1Mar 4, 2022
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Feb 24, 2023
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Feb 15, 2019
Malan overgrowth syndrome2Apr 6, 2020
Malignant tumor of prostate1Oct 17, 2019
Mandibulofacial dysostosis-microcephaly syndrome1Oct 29, 2021
Marfan syndrome2Oct 27, 2022
Marfanoid habitus and intellectual disability77May 15, 2019
Marshall-Smith syndrome1Feb 6, 2018
Megalencephaly-capillary malformation-polymicrogyria syndrome2Jun 14, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Jan 10, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Jan 10, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Feb 15, 2019
Menke-Hennekam syndrome 11Oct 17, 2019
Metachromatic leukodystrophy2Oct 29, 2021
Methylmalonic aciduria and homocystinuria type cblD2Feb 24, 2023
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Oct 17, 2019
Microcephalic primordial dwarfism, Alazami type5Oct 29, 2021
Microcephaly6Jun 14, 2021
Microcephaly 18, primary, autosomal dominant2Feb 22, 2023
Microcephaly 26, primary, autosomal dominant1Feb 22, 2023
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability2Oct 21, 2020
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1Feb 15, 2019
Microcephaly-thin corpus callosum-intellectual disability syndrome1Apr 26, 2017
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Feb 15, 2019
Microphthalmia, isolated, with coloboma 51Apr 26, 2017
Microphthalmia, syndromic 121Feb 6, 2018
Midline facial cleft1Apr 26, 2021
Migraine, familial hemiplegic, 12Apr 26, 2023
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Apr 26, 2023
Mitochondrial complex III deficiency nuclear type 51Feb 15, 2019
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Feb 27, 2022
Moderate global developmental delay15Aug 27, 2019
Motor delay3Sep 27, 2022
Mowat-Wilson syndrome1Oct 26, 2017
Moyamoya disease 21Apr 26, 2023
Mucopolysaccharidosis type 72Feb 24, 2023
Mucopolysaccharidosis, MPS-II1Nov 26, 2018
Mulibrey nanism syndrome1Apr 26, 2017
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome2Apr 11, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 12Feb 27, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 21Feb 27, 2022
Multiple epiphyseal dysplasia type 41Feb 24, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 232Oct 27, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Jul 3, 2017
Myhre syndrome1Feb 6, 2018
Myoclonic-astatic epilepsy2Apr 26, 2017
Myopathy1Jun 14, 2021
Nail-patella syndrome1Apr 26, 2017
Nance-Horan syndrome2Feb 24, 2023
Nemaline myopathy 22Feb 27, 2022
Neonatal hypotonia2Jun 14, 2021
Neonatal respiratory distress3Jun 14, 2021
Neonatal-onset encephalopathy with rigidity and seizures4Feb 15, 2019
Nephronophthisis 121Apr 26, 2017
Neural tube defect1Jun 14, 2021
Neurodegeneration with brain iron accumulation 51Feb 15, 2019
Neurodegeneration with brain iron accumulation 81Feb 15, 2019
Neurodevelopmental abnormality4Oct 29, 2021
Neurodevelopmental delay15Feb 15, 2023
Neurodevelopmental disorder with central and peripheral motor dysfunction1Feb 22, 2023
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism1Feb 22, 2023
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly11Oct 28, 2022
Neurodevelopmental disorder with hypotonia and dysmorphic facies2Feb 24, 2023
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities2Apr 26, 2023
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Feb 15, 2019
Neurodevelopmental disorder with involuntary movements1Apr 26, 2023
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Feb 22, 2023
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies2Feb 22, 2023
Neurodevelopmental disorder with microcephaly, ataxia, and seizures1Aug 19, 2021
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Feb 15, 2019
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures3Feb 24, 2023
Neurodevelopmental disorder with or without autism or seizures3Feb 22, 2023
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA2Feb 22, 2023
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities1Feb 22, 2023
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities2Feb 22, 2023
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Oct 21, 2020
Neurofibromatosis, type 11Feb 15, 2019
Neuronal ceroid lipofuscinosis 13Apr 26, 2017
Neuronal ceroid lipofuscinosis 32Apr 26, 2017
Neuronopathy, distal hereditary motor, autosomal recessive 81Jun 14, 2021
Neuronopathy, distal hereditary motor, type 5A2Feb 15, 2019
Neuropathy, hereditary sensory and autonomic, type 1A1Oct 29, 2021
Nevus sebaceous1Jun 14, 2021
Nicolaides-Baraitser syndrome1Oct 21, 2020
Noonan syndrome 18Apr 26, 2023
Noonan syndrome 101Feb 24, 2023
Noonan syndrome 21Feb 24, 2023
Noonan syndrome 42Feb 24, 2023
Noonan syndrome 61Feb 24, 2023
Noonan syndrome 72Feb 24, 2023
Noonan syndrome 81Apr 26, 2023
Noonan syndrome-like disorder with loose anagen hair 11Apr 26, 2017
Noonan syndrome-like disorder with loose anagen hair 21Oct 17, 2019
O'Donnell-Luria-Rodan syndrome2Feb 24, 2023
Obesity due to leptin receptor gene deficiency1Feb 15, 2019
Obesity due to pro-opiomelanocortin deficiency2Feb 15, 2019
Ocular albinism, type I1Oct 29, 2021
Ocular albinism, type II1Jun 14, 2021
Oculocerebrofacial syndrome, Kaufman type1Apr 26, 2017
Oculocutaneous albinism type 1B2Apr 26, 2023
Ogden syndrome1Feb 6, 2018
Okur-Chung neurodevelopmental syndrome2Feb 6, 2018
Optic atrophy1Jun 14, 2021
Ornithine carbamoyltransferase deficiency1Oct 17, 2019
Orofaciodigital syndrome I8Oct 21, 2020
Osteocraniostenosis1Apr 26, 2023
Osteogenesis imperfecta1Jun 14, 2021
Osteogenesis imperfecta type I1Apr 26, 2023
Osteogenesis imperfecta with normal sclerae, dominant form1Feb 24, 2023
Overgrowth1Apr 8, 2015
PGM1-congenital disorder of glycosylation3Feb 24, 2023
PHARC syndrome2Jul 3, 2017
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome2Jun 14, 2021
PIK3CA related overgrowth syndrome3Jan 10, 2021
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome7Sep 23, 2022
Pallister-Killian syndrome1Mar 22, 2023
Paragangliomas 43Nov 26, 2018
Parkinson disease, late-onset2Apr 26, 2023
Partial congenital absence of teeth1Jun 14, 2021
Pelizaeus-Merzbacher disease2Oct 26, 2017
Pericallosal lipoma3Apr 26, 2021
Persistent Mullerian duct syndrome2Sep 30, 2022
Pes valgus1Sep 23, 2022
Peters plus syndrome1Feb 6, 2018
Pfeiffer syndrome1Feb 6, 2018
Phenylketonuria4Feb 15, 2019
Phenytoin response2Oct 21, 2020
Pigmentary pallidal degeneration1Feb 15, 2019
Pigmented nodular adrenocortical disease, primary, 21Nov 26, 2018
Pitt-Hopkins syndrome4Sep 23, 2022
Poikiloderma with neutropenia1Feb 6, 2018
Poirier-Bienvenu neurodevelopmental syndrome1Feb 22, 2023
Polycystic kidney disease 21Oct 29, 2021
Polycystic kidney disease, adult type3Apr 26, 2023
Polydactyly, postaxial, type a102Apr 26, 2023
Pontocerebellar hypoplasia type 42Feb 24, 2023
Pontocerebellar hypoplasia type 52Feb 24, 2023
Pontocerebellar hypoplasia, type 1D1Feb 27, 2022
Poor speech1Sep 27, 2022
Porencephaly1Feb 24, 2023
Porencephaly-microcephaly-bilateral congenital cataract syndrome1Oct 17, 2019
Preauricular skin tag1Apr 26, 2021
Primary ciliary dyskinesia1Jun 14, 2021
Primary ciliary dyskinesia 76Apr 26, 2023
Primrose syndrome7Jun 17, 2019
Progressive cerebellar ataxia1May 15, 2019
Progressive sclerosing poliodystrophy2Feb 27, 2022
Prominent forehead1Sep 23, 2022
Proximal symphalangism 1A1Jun 14, 2021
Pyridoxine-dependent epilepsy1Oct 29, 2021
Pyruvate dehydrogenase E1-alpha deficiency1Oct 29, 2021
Rahman syndrome1Oct 17, 2019
Renal cortical hyperechogenicity1Jun 14, 2021
Renal cyst5Jun 14, 2021
Renal hypodysplasia/aplasia 32Feb 24, 2023
Renal tubular dysgenesis1Feb 6, 2018
Renal-hepatic-pancreatic dysplasia 22Apr 26, 2023
Retinitis pigmentosa 111Apr 26, 2023
Retinitis pigmentosa 181Oct 21, 2020
Retinitis pigmentosa 31Oct 17, 2019
Retinitis pigmentosa 41Oct 17, 2019
Retrognathia1Sep 23, 2022
Rett syndrome4Oct 29, 2021
Rett syndrome, congenital variant3Apr 26, 2023
Rothmund-Thomson syndrome3Feb 6, 2018
Rubinstein-Taybi syndrome due to CREBBP mutations7Feb 24, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Feb 15, 2019
SIN3A-related intellectual disability syndrome due to a point mutation1Oct 29, 2021
SSR4-congenital disorder of glycosylation1Oct 29, 2021
STAG1-related disorder10Apr 13, 2017
Saethre-Chotzen syndrome1Oct 17, 2019
Sandestig-stefanova syndrome2Feb 24, 2023
Schinzel-Giedion syndrome1Mar 11, 2022
Schuurs-Hoeijmakers syndrome1Feb 15, 2019
See cases25Apr 25, 2023
Seizure14Aug 10, 2022
Seizures, benign familial infantile, 22Feb 27, 2022
Seizures, benign familial infantile, 31Feb 27, 2022
Seizures, benign familial infantile, 51Feb 15, 2019
Severe X-linked myotubular myopathy1Feb 27, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Feb 24, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Oct 29, 2021
Severe global developmental delay18Apr 6, 2020
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome4Sep 23, 2022
Severe intellectual disability-progressive spastic diplegia syndrome1Apr 26, 2017
Severe myoclonic epilepsy in infancy1Oct 17, 2019
Severe neonatal-onset encephalopathy with microcephaly1Jun 14, 2021
Shashi-Pena syndrome2Feb 15, 2019
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Apr 26, 2023
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Apr 26, 2017
Short-rib thoracic dysplasia 14 with polydactyly1Apr 26, 2023
Shprintzen-Goldberg syndrome2Feb 15, 2019
Sick sinus syndrome 11Apr 26, 2017
Simpson-Golabi-Behmel syndrome type 13Oct 27, 2022
Skin tags3Apr 26, 2021
Skraban-Deardorff syndrome2Apr 26, 2023
Smith-Lemli-Opitz syndrome5Oct 29, 2021
Sotos syndrome6Apr 26, 2023
Spastic paraplegia 52, autosomal recessive1Oct 29, 2021
Spastic paraplegia 80, autosomal dominant1Oct 17, 2019
Specific learning disability3Aug 10, 2022
Spinal muscular atrophy with congenital bone fractures 21Oct 29, 2021
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Apr 26, 2023
Spinocerebellar ataxia type 15/161Oct 29, 2021
Spinocerebellar ataxia type 19/221Oct 17, 2019
Spinocerebellar ataxia type 281Oct 17, 2019
Spinocerebellar ataxia type 52Oct 17, 2019
Spondylocarpotarsal synostosis syndrome2Feb 6, 2018
Spondylocostal dysostosis 1, autosomal recessive1Feb 6, 2018
Spondylocostal dysostosis 4, autosomal recessive1Feb 6, 2018
Spondyloepimetaphyseal dysplasia, Strudwick type1Oct 17, 2019
Spondyloepiphyseal dysplasia tarda1Apr 26, 2017
Spondyloepiphyseal dysplasia, Stanescu type1Apr 26, 2017
Stickler syndrome type 11Jun 14, 2021
Sudden infant death-dysgenesis of the testes syndrome2Dec 2, 2020
Syndromic X-linked intellectual disability Claes-Jensen type5Oct 29, 2021
Syndromic X-linked intellectual disability Raymond type2Apr 26, 2023
Syndromic X-linked intellectual disability Siderius type1Apr 26, 2017
Syndromic microphthalmia type 52Feb 15, 2019
Synophrys1Sep 23, 2022
TELO2-related intellectual disability-neurodevelopmental disorder1Feb 22, 2023
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome2Apr 26, 2017
Tatton-Brown-Rahman overgrowth syndrome1Feb 6, 2018
Tay-Sachs disease1Feb 6, 2018
Teebi hypertelorism syndrome1Oct 17, 2019
Telangiectasia, hereditary hemorrhagic, type 11Nov 26, 2018
Temple-Baraitser syndrome1Feb 6, 2018
Tessier cleft2Jun 14, 2021
Thanatophoric dysplasia type 11Apr 26, 2023
Thrombophilia due to protein S deficiency, autosomal dominant1Nov 26, 2018
Tietz syndrome1Jul 3, 2017
Tooth agenesis, selective, 31Apr 26, 2017
Tuberous sclerosis 11Nov 26, 2018
Tuberous sclerosis 21Sep 30, 2022
Turnpenny-fry syndrome1Oct 17, 2019
Ulnar deviation of the wrist3Jul 18, 2017
Ulnar-mammary syndrome1Feb 24, 2023
Upper eyelid coloboma1Apr 26, 2021
Urofacial syndrome 21Feb 15, 2019
Usher syndrome type 2C1Oct 17, 2019
Van den Ende-Gupta syndrome1Apr 26, 2023
Van der Woude syndrome 14Oct 29, 2021
Ventriculomegaly1Jun 14, 2021
Vertebral, cardiac, tracheoesophageal, renal, and limb defects1Oct 29, 2021
Visceral myopathy 11Apr 26, 2017
Vissers-Bodmer syndrome1Oct 21, 2020
Waardenburg syndrome type 2A1Jul 3, 2017
Weaver syndrome1Oct 29, 2021
Wiedemann-Steiner syndrome4Oct 17, 2019
Wolfram-like syndrome1Jul 3, 2017
X-linked Alport syndrome3Apr 26, 2023
X-linked Opitz G/BBB syndrome1Oct 29, 2021
X-linked complicated corpus callosum dysgenesis1Feb 24, 2023
X-linked intellectual disability Cabezas type2Oct 26, 2017
X-linked intellectual disability, Cantagrel type1Oct 26, 2017
X-linked intellectual disability, van Esch type1Sep 23, 2022
Zimmermann-Laband syndrome 11Feb 6, 2018
brain structure abnormalities1Oct 20, 2020
von Willebrand disease type 11Oct 17, 2019
von Willebrand disease type 21Nov 26, 2018