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: 1124

Gene

GeneSubmissionsLast Updated
ABCA121Feb 6, 2018
ABCC92Jul 3, 2017
ABHD122Jul 3, 2017
ACADM2Jun 14, 2021
ACE1Feb 6, 2018
ACTB2Oct 20, 2020
ACTG21Apr 26, 2017
ACTL6B1Jun 14, 2021
ADGRV11Oct 17, 2019
ADNP3Jun 14, 2021
AFF42Mar 21, 2021
AFG3L21Oct 17, 2019
AHDC15Oct 17, 2019
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
ANKRD119Jun 14, 2021
ANO102Apr 26, 2017
AP3B22Apr 26, 2017
AP4S11Oct 29, 2021
APC1Nov 26, 2018
APOB1May 15, 2019
ARFGEF110Feb 4, 2021
ARHGEF261May 15, 2019
ARHGEF92Jul 3, 2017
ARID1A3Jun 14, 2021
ARID1B6Oct 17, 2019
ARID21Jun 14, 2021
ARSA2Oct 29, 2021
ARX2Jun 14, 2021
ASCC11Oct 29, 2021
ASPM2Jun 14, 2021
ASXL13Jun 14, 2021
ASXL22Feb 15, 2019
ASXL32Oct 29, 2021
ATIC2Apr 26, 2017
ATL12Jun 14, 2021
ATP1A12May 15, 2019
ATP1A1-AS11May 15, 2019
ATP6V1A1Jun 14, 2021
ATRIP1Feb 6, 2018
ATRIP-TREX11Feb 6, 2018
ATRX3Jun 14, 2021
ATXN2L1May 15, 2019
AUTS22Oct 17, 2019
B3GLCT2May 15, 2019
BCL11A4May 15, 2019
BCL11B1Jun 14, 2021
BEGAIN1May 15, 2019
BICRA1Oct 29, 2021
BRAF4Oct 21, 2020
BRAT15Jun 14, 2021
BRCA12Oct 17, 2019
BRCA28Oct 17, 2019
BRPF12Jun 14, 2021
BSCL21Feb 15, 2019
C12orf601Oct 29, 2021
CACNA1A1Oct 29, 2021
CACNA1E1Oct 29, 2021
CACNA1S1Nov 26, 2018
CAMK2A1Feb 15, 2019
CAMTA12Oct 20, 2020
CASK1Jun 14, 2021
CAV31Nov 26, 2018
CCND21Feb 15, 2019
CCNH1Oct 29, 2021
CD1511Oct 21, 2020
CDAN12Oct 17, 2019
CDC421Feb 15, 2019
CDH51May 15, 2019
CDK102Jun 14, 2021
CDK136Oct 29, 2021
CDK81Oct 20, 2020
CDKL52Oct 29, 2021
CEP551Oct 21, 2020
CERS21May 15, 2019
CFTR6Jun 14, 2021
CFTR-AS11Oct 17, 2019
CHAMP11Oct 17, 2019
CHD21Oct 21, 2020
CHD31May 15, 2019
CHD72Oct 29, 2021
CHD84Jun 14, 2021
CIC1May 15, 2019
CIT1May 15, 2019
CLCN12Oct 29, 2021
CLCN41Oct 17, 2019
CLDN111May 15, 2019
CLDN92Oct 29, 2021
CLN32Apr 26, 2017
CLPB2Jul 31, 2021
CNGA31Oct 21, 2020
CNOT13Jun 14, 2021
CNP1May 15, 2019
COG71Oct 17, 2019
COL12A11Jun 14, 2021
COL1A22Oct 29, 2021
COL2A13Jun 14, 2021
COL3A11Feb 15, 2019
COL4A13Jun 14, 2021
COL4A31Oct 20, 2020
COL4A42Oct 29, 2021
COL4A51Feb 15, 2019
COL6A11Feb 6, 2018
COL6A31May 15, 2019
COQ8A4Apr 26, 2017
CPEB1-AS12Apr 26, 2017
CRAT1Feb 15, 2019
CREBBP8Oct 29, 2021
CRYAA1Oct 21, 2020
CSNK2A12Feb 6, 2018
CSNK2B1Oct 21, 2020
CTNNB11Apr 26, 2017
CUL4B2Oct 26, 2017
CYFIP22Oct 17, 2019
CYP21A21Nov 26, 2018
CYP2C92Oct 21, 2020
CYP4F221Oct 21, 2020
DDX3X9Oct 29, 2021
DEPDC53Jun 14, 2021
DES1Nov 26, 2018
DHCR73Oct 29, 2021
DKK31May 15, 2019
DLG44Oct 29, 2021
DLL12Jun 14, 2021
DLL31Feb 6, 2018
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
DUSP292Oct 29, 2021
DYM1Feb 15, 2019
DYM-AS11Feb 15, 2019
DYNC1H13Oct 17, 2019
DYNC2H14Oct 29, 2021
DYRK1A7Oct 29, 2021
DYSF2Feb 6, 2018
EBF33Oct 29, 2021
EEF1A22Dec 26, 2021
EFEMP21Oct 20, 2020
EFNB11Feb 6, 2018
EFTUD21Oct 29, 2021
EHMT15May 15, 2019
EIF2S31Sep 24, 2019
EIF3F1Oct 29, 2021
EMILIN31May 15, 2019
ENG1Nov 26, 2018
EOGT1Mar 21, 2021
EP3003Feb 15, 2019
ERCC22Feb 6, 2018
EXOSC91Mar 21, 2021
EZH21Oct 29, 2021
F111Oct 17, 2019
F11-AS11Oct 17, 2019
FAM83H1May 15, 2019
FANCA1Oct 29, 2021
FBN21May 15, 2019
FBXO111May 15, 2019
FGFR11Jun 14, 2021
FGFR22Feb 6, 2018
FGFR32Oct 29, 2021
FIBP1Apr 8, 2015
FKBP141Dec 26, 2021
FKBP14-AS11Dec 26, 2021
FKBP81May 15, 2019
FKRP1Jun 14, 2021
FLCN2Nov 26, 2018
FLNA1Feb 15, 2019
FLNB2Feb 6, 2018
FOXC11Feb 15, 2019
FOXF11Oct 29, 2021
FOXG11Oct 26, 2017
FOXL21Feb 6, 2018
FOXP11Feb 6, 2018
FOXP31Feb 15, 2019
FPGT-TNNI3K1Apr 26, 2017
FUT81Oct 20, 2020
GABRA12May 15, 2019
GABRB31Mar 21, 2021
GATAD2B3Oct 20, 2020
GBA1Oct 29, 2021
GCH11Nov 26, 2018
GDF61Oct 17, 2019
GFER2Apr 26, 2017
GJB23Oct 29, 2021
GLI21Apr 26, 2021
GLMN1Feb 6, 2018
GLT8D21May 15, 2019
GNA112Jun 14, 2021
GNAI11Jun 14, 2021
GNAO11Apr 26, 2017
GNAQ4Jun 14, 2021
GNB22Oct 29, 2021
GPC31Nov 26, 2018
GPD1L1Nov 26, 2018
GPR1431Oct 29, 2021
GREB1L1Jun 14, 2021
GRHL31Oct 26, 2017
GRIN11Jun 14, 2021
GRIN2B1Oct 17, 2019
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
HNRNPU2Jun 14, 2021
HNRNPUL2-BSCL21Feb 15, 2019
HPDL2Oct 20, 2020
HPS31Apr 26, 2017
HRAS1Oct 29, 2021
HSD17B101Oct 29, 2021
HUWE11Oct 17, 2019
IDS1Nov 26, 2018
IDUA2Jun 14, 2021
IFT1221Oct 21, 2020
IGF1R2Jun 14, 2021
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
KANSL12Jul 3, 2017
KAT6A3Jun 14, 2021
KAT6B3Oct 29, 2021
KCNA21Apr 26, 2017
KCNB13May 15, 2019
KCND31Oct 17, 2019
KCNE21Nov 26, 2018
KCNH11Feb 6, 2018
KCNQ14Feb 15, 2019
KCNQ1-AS12Nov 26, 2018
KCNQ24Jun 14, 2021
KCNQ32Jun 17, 2019
KCNT13Oct 29, 2021
KDM5C5Oct 29, 2021
KDM6A1Feb 6, 2018
KIF112Oct 21, 2020
KIF1A2Feb 15, 2019
KIF5A1Jun 14, 2021
KLHL74Jul 18, 2017
KMT2A6Jun 14, 2021
KMT2D4Oct 29, 2021
KMT2E1Oct 20, 2020
KMT5B3Jun 14, 2021
KRAS2Jun 14, 2021
LARP77Oct 29, 2021
LCT1Oct 21, 2020
LEPR1Feb 15, 2019
LHCGR2Oct 17, 2019
LINS11Oct 21, 2020
LMBRD21Oct 20, 2020
LMNA2Nov 26, 2018
LMX1B1Apr 26, 2017
LOC1019270551Mar 21, 2021
LOC1053715661Feb 6, 2018
LOC1060501021Nov 26, 2018
LOC1067808001Nov 26, 2018
LOC1101212692Nov 26, 2018
LOC1116744721Nov 26, 2018
LOC1116744751Nov 26, 2018
LOC1125434691May 15, 2019
LOC1148278501Nov 26, 2018
LONP12Oct 17, 2019
LRIG21Feb 15, 2019
LRP51Oct 21, 2020
LRRC531Apr 26, 2017
LRRC561Oct 29, 2021
LSS1Oct 21, 2020
LZTR11Jun 14, 2021
MAB21L11Apr 26, 2017
MAN2B14Feb 6, 2018
MAP2K11Oct 17, 2019
MAPK8IP31Oct 17, 2019
MC4R2Oct 29, 2021
MEA13Jun 14, 2021
MECP25Oct 29, 2021
MED121Apr 26, 2017
MED13L9Oct 29, 2021
MED231Feb 6, 2018
MEF2C1Oct 17, 2019
MFF-DT1Oct 20, 2020
MID11Oct 29, 2021
MIR302CHG3Oct 29, 2021
MITF1Jul 3, 2017
MLH31Nov 26, 2018
MRE111Apr 26, 2017
MSL311Oct 17, 2019
MT-ATP61May 15, 2019
MT-ND11May 15, 2019
MT-ND41May 15, 2019
MT-ND62May 15, 2019
MT-RNR12May 15, 2019
MT-TS11May 15, 2019
MTM12Jun 14, 2021
MTOR11Sep 29, 2020
MTREX1May 15, 2019
MUSK2Feb 6, 2018
MYBPC35Oct 17, 2019
MYH72Oct 20, 2020
MYL22Nov 26, 2018
MYL31Nov 26, 2018
MYLK1Nov 26, 2018
MYO15A1Feb 6, 2018
MYO61Oct 29, 2021
MYRF1Mar 21, 2021
MYT1L1Feb 15, 2019
NAA102Feb 6, 2018
NALCN1Jun 14, 2021
NBEA2Jun 14, 2021
NCSTN1Feb 6, 2018
NEB2Oct 17, 2019
NEFL1Oct 17, 2019
NEU31May 15, 2019
NEXMIF1Oct 26, 2017
NF11Feb 15, 2019
NF21May 15, 2019
NFIA2Oct 29, 2021
NFIB1May 15, 2019
NFIX6Apr 6, 2020
NGLY12Apr 26, 2017
NHS1Apr 26, 2017
NIPBL4Jun 14, 2021
NOG1Jun 14, 2021
NOTCH31Jun 14, 2021
NPHS11Feb 6, 2018
NPRL21Jun 14, 2021
NPRL31Oct 29, 2021
NR2F16Oct 29, 2021
NR5A11Apr 26, 2017
NRAS1Jun 14, 2021
NSD17Jun 14, 2021
NSD21Oct 29, 2021
NTMT21May 15, 2019
NUP1882Jun 14, 2021
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
PACS11Feb 15, 2019
PACS22Mar 21, 2021
PAEP1Feb 15, 2019
PAFAH1B11Jun 14, 2021
PAH5May 15, 2019
PAK31Jun 14, 2021
PANK21Feb 15, 2019
PAX31Jun 14, 2021
PAX91Apr 26, 2017
PBX12Feb 15, 2019
PCGF21Oct 17, 2019
PCSK72Apr 26, 2021
PCSK91Nov 26, 2018
PDCD101Oct 29, 2021
PDHA11Oct 29, 2021
PDZD91Feb 15, 2019
PGAP22Oct 17, 2019
PGAP33Oct 20, 2020
PGM13Oct 29, 2021
PHF62Oct 17, 2019
PHF81Apr 26, 2017
PHIP3Jun 14, 2021
PHKA22Jun 14, 2021
PICALM1May 15, 2019
PIGA1Mar 21, 2021
PIGN2Jul 31, 2021
PIGQ1Oct 29, 2021
PIK3CA15Jun 14, 2021
PIK3R22Jun 14, 2021
PKD13Oct 29, 2021
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
PNPLA81Mar 21, 2021
PNPO1Feb 15, 2019
POC1A1Apr 26, 2017
POGZ7Oct 29, 2021
POLG2Mar 21, 2021
POLR2A1Oct 29, 2021
POMC2Feb 15, 2019
POMGNT21Jul 3, 2017
PPM1D2Oct 21, 2020
PPP1CB1Oct 17, 2019
PPP2R1A1Apr 26, 2017
PPP2R5C1Apr 26, 2017
PPP2R5D3Jun 14, 2021
PPT13Apr 26, 2017
PROS11Nov 26, 2018
PRPF31Oct 21, 2020
PRRT24Jun 14, 2021
PRRX11Oct 20, 2020
PRUNE11Feb 15, 2019
PSEN11Oct 21, 2020
PTEN2Dec 26, 2021
PTPN118Oct 29, 2021
PTS2Oct 29, 2021
PUF603Apr 6, 2020
PURA6Oct 29, 2021
PYCR12Oct 17, 2019
PYGL1Oct 17, 2019
QRICH11Jun 14, 2021
RAB9B2Oct 26, 2017
RAC31Oct 21, 2020
RAD211Feb 6, 2018
RALA1Jun 14, 2021
RALGAPB1May 15, 2019
RANBP101May 15, 2019
RARB1Feb 6, 2018
RASA11Oct 29, 2021
RBM201Oct 21, 2020
RECQL43Feb 6, 2018
REEP11Jul 3, 2017
RET5Feb 15, 2019
RHO1Oct 17, 2019
RHOA3Jun 14, 2021
RLIM1Jun 14, 2021
RNASEH2B1Apr 26, 2017
RPGR1Oct 17, 2019
RPS6KA32Nov 26, 2018
RS11Oct 29, 2021
RSPH11Jun 14, 2021
RYR22Oct 20, 2020
SACS2Feb 6, 2018
SAMD91Feb 6, 2018
SARS11Aug 19, 2021
SATB12Mar 21, 2021
SATB24Oct 29, 2021
SCN1A2Oct 17, 2019
SCN2A10Oct 29, 2021
SCN3B1Nov 26, 2018
SCN5A7Nov 26, 2018
SCYL22Oct 29, 2021
SDHB3Nov 26, 2018
SET1Jun 14, 2021
SETBP12Oct 29, 2021
SETD21Jun 14, 2021
SETD54Jun 14, 2021
SGCD2Nov 26, 2018
SH3TC24Oct 17, 2019
SHH1Apr 26, 2017
SHOC21Apr 26, 2017
SIDT11May 15, 2019
SIN3A1Oct 29, 2021
SKI2Feb 15, 2019
SLC13A53Apr 26, 2017
SLC16A11Oct 17, 2019
SLC16A22Feb 6, 2018
SLC26A11Jun 14, 2021
SLC26A21Oct 21, 2020
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
SMARCC21Oct 29, 2021
SMARCE12Jun 14, 2021
SMC31Oct 17, 2019
SMO2Oct 20, 2020
SMPD42Jun 14, 2021
SNAP251Jun 14, 2021
SNHG142Feb 6, 2018
SNHG311Feb 6, 2018
SNTA11Nov 26, 2018
SON1Oct 29, 2021
SORD1Jun 14, 2021
SOS13Jun 14, 2021
SOX111Feb 15, 2019
SOX53Oct 29, 2021
SOX91Feb 6, 2018
SPAG91May 15, 2019
SPAST2Oct 29, 2021
SPATA51Feb 15, 2019
SPECC1L2Oct 17, 2019
SPECC1L-ADORA2A2Oct 17, 2019
SPEN1Jun 14, 2021
SPG112Jul 3, 2017
SPR1Apr 26, 2017
SPTBN22Oct 17, 2019
SPTLC11Oct 29, 2021
SRCAP1Feb 6, 2018
SSR41Oct 29, 2021
ST3GAL51Apr 26, 2017
STAG110Apr 13, 2017
STK111May 15, 2019
STON1-GTF2A1L2Oct 17, 2019
STX1B1Oct 29, 2021
STXBP11Oct 26, 2017
SYN13Oct 17, 2019
SYNGAP18Dec 26, 2021
TAB21Jun 14, 2021
TAF12May 15, 2019
TAF21Apr 26, 2017
TAOK11Jun 14, 2021
TAPBPL1May 15, 2019
TBL1XR12Jul 3, 2017
TBR135Oct 29, 2021
TBX41Oct 20, 2020
TCF203Jun 14, 2021
TCF43Apr 26, 2017
TCF7L21Oct 29, 2021
TET32Oct 29, 2021
TFAP2A1Feb 6, 2018
TFAP2A-AS21Feb 6, 2018
TFE31Oct 29, 2021
TGDS1Oct 20, 2020
TGM14Jun 14, 2021
THOC62Apr 26, 2017
TLK21Oct 17, 2019
TMC12Jun 14, 2021
TMCO11Feb 6, 2018
TNNI3K1Apr 26, 2017
TNNT22Nov 26, 2018
TNPO21Oct 29, 2021
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
TRRAP1Dec 26, 2021
TSC11Nov 26, 2018
TSPAN71Nov 26, 2018
TSPYL12Dec 2, 2020
TTC21B1Apr 26, 2017
TTC21B-AS11Apr 26, 2017
TTN6Mar 21, 2021
TTN-AS14Mar 21, 2021
TTPA1Apr 26, 2017
TUBB2Dec 26, 2021
TUBB2A1Feb 15, 2019
TUBB33Apr 26, 2017
TWIST11Oct 17, 2019
UBAP11Oct 17, 2019
UBE3A3Feb 15, 2019
UBE3B1Apr 26, 2017
UQCRC21Feb 15, 2019
USB11Feb 6, 2018
USH2A1Jun 14, 2021
USP72Jun 14, 2021
VCP1Jul 3, 2017
VPS13B12Jun 14, 2021
VWF2Oct 17, 2019
WASHC42Jun 3, 2019
WASHC51Feb 15, 2019
WBP111Oct 29, 2021
WDFY32Jun 14, 2021
WDR261Oct 17, 2019
WDR451Feb 15, 2019
WFS11Jul 3, 2017
WSCD21May 15, 2019
YARS21Apr 26, 2017
YY1AP11Jun 14, 2021
ZBTB183May 15, 2019
ZBTB208Jun 17, 2019
ZBTB461May 15, 2019
ZDHHC91Oct 29, 2021
ZEB23May 15, 2019
ZNF1482Oct 29, 2021
ZNF2921Jun 14, 2021
ZSWIM61Feb 6, 2018

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia2Jul 31, 2021
46,XY sex reversal, type 31Apr 26, 2017
4p partial monosomy syndrome1Oct 29, 2021
AICAR transformylase/IMP cyclohydrolase deficiency2Apr 26, 2017
ALG3-CDG2Jun 14, 2021
Abdominal obesity-metabolic syndrome 31Oct 26, 2017
Abnormal brainstem MRI signal intensity1Aug 27, 2019
Abnormal cerebral morphology2Jun 14, 2021
Abnormal facial shape2Jun 14, 2021
Abnormal pyramidal sign1Jun 14, 2021
Abnormality of brain morphology4Jun 14, 2021
Abnormality of the frontal bone1Apr 26, 2021
Absent speech1Jan 9, 2019
Achondroplasia1Oct 29, 2021
Achromatopsia 21Oct 21, 2020
Acromelic frontonasal dysostosis1Feb 6, 2018
Acute intermittent porphyria1Nov 26, 2018
Adams-Oliver syndrome 21Oct 21, 2020
Adams-Oliver syndrome 41Mar 21, 2021
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
Alazami syndrome5Oct 29, 2021
Allan-Herndon-Dudley syndrome2Feb 6, 2018
Alopecia-intellectual disability syndrome 42Oct 21, 2020
Alpha thalassemia-X-linked intellectual disability syndrome2Nov 26, 2018
Alport syndrome 1, X-linked recessive1Feb 15, 2019
Alport syndrome 3, autosomal dominant1Oct 20, 2020
Alstrom syndrome4Feb 6, 2018
Alveolar capillary dysplasia with pulmonary venous misalignment1Oct 29, 2021
Aminoglycoside-induced deafness2May 15, 2019
Angelman syndrome2Feb 6, 2018
Angioosteohypertrophic syndrome1Jun 14, 2021
Aortic aneurysm1Jun 14, 2021
Aortic aneurysm, familial thoracic 71Nov 26, 2018
Aplasia/Hypoplasia of the corpus callosum1Jan 9, 2019
Arboleda-Tham syndrome2Feb 6, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 104Oct 17, 2019
Arrhythmogenic right ventricular dysplasia 81Nov 26, 2018
Arrhythmogenic right ventricular dysplasia 92Oct 17, 2019
Arrhythmogenic right ventricular dysplasia, familial, 22Oct 20, 2020
Arterial tortuosity syndrome1Oct 20, 2020
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum2Oct 29, 2021
Ataxia-telangiectasia-like disorder 11Apr 26, 2017
Attention deficit hyperactivity disorder2Aug 27, 2019
Autism 51Oct 29, 2021
Autism, susceptibility to, 182Oct 17, 2019
Autistic behavior33Aug 23, 2021
Autosomal dominant nonsyndromic deafness 221Oct 29, 2021
Autosomal recessive congenital ichthyosis 12Mar 21, 2021
Autosomal recessive congenital ichthyosis 4B1Feb 6, 2018
Autosomal recessive congenital ichthyosis 51Oct 21, 2020
Autosomal recessive cutis laxa type 1B1Oct 20, 2020
Autosomal recessive cutis laxa type 2B2Oct 17, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2B2Feb 6, 2018
Autosomal recessive polycystic kidney disease4Feb 6, 2018
Axenfeld-Rieger syndrome type 31Feb 15, 2019
BH4-deficient hyperphenylalaninemia A2Oct 29, 2021
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202Oct 29, 2021
Bainbridge-Ropers syndrome1Oct 29, 2021
Baraitser-Winter syndrome 12Oct 20, 2020
Beaulieu-Boycott-Innes syndrome2Apr 26, 2017
Beck-Fahrner syndrome2Oct 29, 2021
Behavioral abnormality10Feb 4, 2021
Benign familial hematuria1Oct 29, 2021
Bethlem myopathy 11Feb 6, 2018
Blepharophimosis - intellectual disability syndrome1Oct 20, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type3Oct 29, 2021
Blepharophimosis, ptosis, and epicanthus inversus1Feb 6, 2018
Bohring-Opitz syndrome2Feb 6, 2018
Borjeson-Forssman-Lehmann syndrome2Oct 17, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome6Oct 29, 2021
Brain malformations and urinary tract defects2Oct 29, 2021
Brain small vessel disease 1 with or without ocular anomalies2Oct 20, 2020
Branchiooculofacial syndrome1Feb 6, 2018
Breast-ovarian cancer, familial 12Oct 17, 2019
Breast-ovarian cancer, familial 28Oct 17, 2019
Brugada syndrome 21Nov 26, 2018
Brugada syndrome 71Nov 26, 2018
CEBALID syndrome11Sep 29, 2020
CHARGE association2Oct 29, 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
Cardiac conduction disease with or without dilated cardiomyopathy1Apr 26, 2017
Cardiac valvular dysplasia, X-linked1Feb 15, 2019
Cardiac-urogenital syndrome1Mar 21, 2021
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 ataxia, nonprogressive, with mental retardation2Oct 20, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11Jun 14, 2021
Cerebral cavernous malformations 31Oct 29, 2021
Cerebrooculofacioskeletal syndrome 22Feb 6, 2018
Charcot-Marie-Tooth disease type 2E1Oct 17, 2019
Charcot-Marie-Tooth disease, axonal, type 2O1Apr 26, 2017
Charcot-Marie-Tooth disease, demyelinating, type 1f1Oct 17, 2019
Charcot-Marie-Tooth disease, dominant intermediate E1Oct 29, 2021
Charcot-Marie-Tooth disease, dominant intermediate G1Oct 17, 2019
Charcot-Marie-Tooth disease, type 4C4Oct 17, 2019
Charlevoix-Saguenay spastic ataxia2Feb 6, 2018
Chops syndrome2Mar 21, 2021
Chromosome 15q11-q13 duplication syndrome1Feb 15, 2019
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
Coenzyme Q10 deficiency, primary, 44Apr 26, 2017
Coffin-Lowry syndrome1Feb 6, 2018
Coffin-Siris syndrome 14Oct 17, 2019
Coffin-Siris syndrome 121Oct 29, 2021
Coffin-Siris syndrome 51Feb 6, 2018
Coffin-Siris syndrome 81Oct 29, 2021
Cohen syndrome12Jun 14, 2021
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay2Feb 15, 2019
Congenital cleft nose1Apr 26, 2021
Congenital disorder of deglycosylation2Apr 26, 2017
Congenital disorder of glycosylation type 1t3Oct 29, 2021
Congenital disorder of glycosylation type 1y1Oct 29, 2021
Congenital disorder of glycosylation with defective fucosylation 11Oct 20, 2020
Congenital dyserythropoietic anemia, type I2Oct 17, 2019
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder4Oct 29, 2021
Congenital ichthyosiform erythroderma2Jun 14, 2021
Congenital lactase deficiency1Oct 21, 2020
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi8Jun 14, 2021
Congenital macrodactylia1Jun 14, 2021
Congenital ocular coloboma1Apr 8, 2015
Cornelia de Lange syndrome 13Oct 21, 2020
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
Cortical dysplasia, complex, with other brain malformations 12Apr 26, 2017
Cortical dysplasia, complex, with other brain malformations 51Feb 15, 2019
Cortical dysplasia, complex, with other brain malformations 61Dec 26, 2021
Costello syndrome1Oct 29, 2021
Coxopodopatellar syndrome1Oct 20, 2020
Cranioectodermal dysplasia 11Oct 21, 2020
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1Feb 6, 2018
Craniofrontonasal syndrome1Feb 6, 2018
Craniosynostosis syndrome1Jun 14, 2021
Creatine transporter deficiency3Oct 29, 2021
Cutis laxa, autosomal recessive IIIA1Feb 6, 2018
Cystic fibrosis5Oct 17, 2019
Deafness, autosomal recessive 1A1Oct 29, 2021
Deafness, autosomal recessive 221Oct 29, 2021
Deafness, autosomal recessive 31Feb 6, 2018
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct2Jun 14, 2021
Deficiency of alpha-mannosidase4Feb 6, 2018
Delayed fine motor development5Aug 27, 2019
Delayed speech and language development10Feb 4, 2021
Demyelinating peripheral neuropathy1Jun 14, 2021
Developmental and epileptic encephalopathy 941Oct 21, 2020
Developmental and epileptic encephalopathy, 253Apr 26, 2017
Developmental and epileptic encephalopathy, 652Oct 17, 2019
Developmental and epileptic encephalopathy, 661Mar 21, 2021
Developmental and epileptic encephalopathy, 771Oct 29, 2021
Developmental delay1Oct 20, 2020
Developmental delay with or without dysmorphic facies and autism1Dec 26, 2021
Developmental delay with short stature, dysmorphic features, and sparse hair1Feb 6, 2018
Developmental delay with variable intellectual impairment and behavioral abnormalities1Oct 21, 2020
Developmental delay, intellectual disability, obesity, and dysmorphic features2Jun 14, 2021
Dilated cardiomyopathy 1A2Nov 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 11Feb 6, 2018
Dystonia 51Nov 26, 2018
EEG abnormality1Jan 9, 2019
Early infantile epileptic encephalopathy 116Oct 29, 2021
Early infantile epileptic encephalopathy 142Oct 29, 2021
Early infantile epileptic encephalopathy 171Apr 26, 2017
Early infantile epileptic encephalopathy 21Apr 6, 2020
Early infantile epileptic encephalopathy 41Oct 26, 2017
Early infantile epileptic encephalopathy 73Oct 20, 2020
Early infantile epileptic encephalopathy 82Jul 3, 2017
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies2Jun 14, 2021
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1Dec 26, 2021
Ehlers-Danlos syndrome, type 41Feb 15, 2019
Encephalocraniocutaneous lipomatosis1Jun 14, 2021
Encephalopathy6Jun 14, 2021
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Apr 26, 2017
Epilepsy, X-linked, with variable learning disabilities and behavior disorders3Oct 17, 2019
Epilepsy, familial focal, with variable foci 12Oct 17, 2019
Epilepsy, familial focal, with variable foci 31Oct 29, 2021
Epilepsy, hearing loss, and mental retardation syndrome1Feb 15, 2019
Epilepsy, nocturnal frontal lobe, 51Jun 14, 2021
Epileptic encephalopathy6Jun 14, 2021
Epileptic encephalopathy, early infantile, 191Apr 26, 2017
Epileptic encephalopathy, early infantile, 241Oct 26, 2017
Epileptic encephalopathy, early infantile, 262Feb 6, 2018
Epileptic encephalopathy, early infantile, 271Oct 17, 2019
Epileptic encephalopathy, early infantile, 311Oct 17, 2019
Epileptic encephalopathy, early infantile, 321Apr 26, 2017
Epileptic encephalopathy, early infantile, 332Dec 26, 2021
Epileptic encephalopathy, early infantile, 431Mar 21, 2021
Epileptic encephalopathy, early infantile, 541Feb 6, 2018
Epileptic spasm2Jun 14, 2021
Episodic kinesigenic dyskinesia 11Jun 14, 2021
Exercise-induced hyperinsulinism1Oct 17, 2019
Exudative vitreoretinopathy 41Oct 21, 2020
FG syndrome 11Apr 26, 2017
Facial asymmetry1Apr 26, 2021
Facial cleft2Jun 14, 2021
Familial acne inversa 11Feb 6, 2018
Familial adenomatous polyposis 11Nov 26, 2018
Familial cancer of breast2Oct 17, 2019
Familial hemiplegic migraine type 11Oct 29, 2021
Familial hypercholesterolemia 31Nov 26, 2018
Familial hypertrophic cardiomyopathy 12Oct 20, 2020
Familial hypertrophic cardiomyopathy 102Nov 26, 2018
Familial hypertrophic cardiomyopathy 81Nov 26, 2018
Familial isolated deficiency of vitamin E1Apr 26, 2017
Familial multiple nevi flammei2Jun 14, 2021
Fetal cystic hygroma3Jun 14, 2021
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
Frontonasal dysplasia 11Feb 6, 2018
Frontotemporal dementia1Oct 21, 2020
GLUT1 deficiency syndrome 11Apr 26, 2017
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
Global developmental delay25Jun 14, 2021
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies2Oct 29, 2021
Glomuvenous malformations1Feb 6, 2018
Glycogen storage disease type IXa11Oct 17, 2019
Glycogen storage disease, type VI1Oct 17, 2019
Hamartoma1Jun 14, 2021
Hamartoma of hypothalamus2Oct 20, 2020
Hearing impairment5Jun 14, 2021
Hearing loss1Aug 17, 2020
Hearing loss, autosomal recessive 1161Oct 29, 2021
Helsmoortel-Van der Aa Syndrome1Apr 26, 2017
Hemangiomatosis1Jun 14, 2021
Hemihypertrophy2Jun 14, 2021
Hemiplegia/hemiparesis1Jun 14, 2021
Hemochromatosis type 11Oct 17, 2019
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1Oct 17, 2019
Hereditary factor XI deficiency disease1Oct 17, 2019
Hereditary hemorrhagic telangiectasia type 11Nov 26, 2018
Hereditary nonpolyposis colorectal cancer type 41Feb 6, 2018
Hereditary nonpolyposis colorectal cancer type 71Nov 26, 2018
Hereditary spastic paraplegia 3A1Oct 17, 2019
Hereditary spastic paraplegia 81Feb 15, 2019
Hermansky-Pudlak syndrome 31Apr 26, 2017
Hirschsprung disease 11Feb 15, 2019
Hydranencephaly with renal aplasia-dysplasia1Oct 21, 2020
Hyperphosphatasia with mental retardation syndrome 32Oct 17, 2019
Hyperphosphatasia with mental retardation syndrome 43Oct 20, 2020
Hypertelorism1Apr 26, 2021
Hypertelorism, Teebi type1Oct 17, 2019
Hypertrichotic osteochondrodysplasia Cantu type2Jul 3, 2017
Hypogonadism with anosmia1Jun 14, 2021
Hypokalemic periodic paralysis 11Nov 26, 2018
Hypoplasia of the frontal lobes1Aug 27, 2019
Hypoplastic anterior commissure1Jan 9, 2019
Hypoplastic hippocampus1Jan 9, 2019
Hypotonia, ataxia, and delayed development syndrome2Oct 29, 2021
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11Jul 3, 2017
Increased nuchal translucency1Jun 14, 2021
Inflexible adherence to routines or rituals1Jan 9, 2019
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Feb 15, 2019
Intellectual developmental disorder 621Oct 29, 2021
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 threshold2Oct 21, 2020
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 persistence of fetal hemoglobin3Feb 15, 2019
Intellectual developmental disorder, autosomal recessive 671Oct 29, 2021
Intellectual disability53Jun 14, 2021
Intellectual disability, X-linked syndromic, Turner type1Oct 17, 2019
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 92Feb 15, 2019
Intellectual disability, severe1Apr 26, 2017
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome7Jun 17, 2019
Interstitial pneumonitis2Jun 14, 2021
Juvenile retinoschisis1Oct 29, 2021
KBG syndrome8Jun 14, 2021
Kabuki syndrome 13Oct 29, 2021
Kabuki syndrome 21Feb 6, 2018
Kaufman oculocerebrofacial syndrome1Apr 26, 2017
Kidney damage1Jun 14, 2021
Kleefstra syndrome 14Feb 15, 2019
Klippel-Feil syndrome 1, autosomal dominant1Oct 17, 2019
Kohlschutter-Tonz syndrome-like1Mar 21, 2021
Koolen-de Vries syndrome2Jul 3, 2017
LEOPARD syndrome 12Oct 17, 2019
Lamb-shaffer syndrome3Oct 29, 2021
Language impairment1Apr 6, 2020
Large hands1Apr 8, 2015
Leber optic atrophy3May 15, 2019
Left ventricular noncompaction 105Oct 17, 2019
Left ventricular noncompaction 62Nov 26, 2018
Leptin receptor deficiency1Feb 15, 2019
Levy-Hollister syndrome1Apr 26, 2017
Leydig cell hypoplasia, type 12Oct 17, 2019
Li-Fraumeni syndrome 11Feb 6, 2018
Limb myoclonus1Aug 27, 2019
Limbal dermoid1Apr 26, 2021
Linear sebaceous nevus sequence1Jun 14, 2021
Lipoma of corpus callosum3Apr 26, 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
MEHMO syndrome1Sep 24, 2019
Macrocephalus4Jun 14, 2021
Macrocephaly/autism syndrome1Dec 26, 2021
Malignant tumor of prostate1Oct 17, 2019
Mandibulofacial dysostosis-microcephaly syndrome1Oct 29, 2021
Marfan syndrome1Apr 26, 2017
Marfanoid habitus and intellectual disability78May 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
Mental retardation 30, X-linked1Jun 14, 2021
Mental retardation 49, X-linked1Oct 17, 2019
Mental retardation 58, X-linked1Nov 26, 2018
Mental retardation and distinctive facial features with or without cardiac defects6Oct 29, 2021
Mental retardation with language impairment and with or without autistic features1Feb 6, 2018
Mental retardation, X-linked 11Jul 3, 2017
Mental retardation, X-linked 1027Oct 29, 2021
Mental retardation, X-linked 191Nov 26, 2018
Mental retardation, X-linked 981Oct 26, 2017
Mental retardation, X-linked, syndromic 101Oct 29, 2021
Mental retardation, X-linked, syndromic 331Jul 3, 2017
Mental retardation, X-linked, syndromic, Raymond type1Oct 29, 2021
Mental retardation, autosomal dominant 132Oct 17, 2019
Mental retardation, autosomal dominant 142Jun 14, 2021
Mental retardation, autosomal dominant 151Feb 6, 2018
Mental retardation, autosomal dominant 161Apr 26, 2017
Mental retardation, autosomal dominant 183Oct 20, 2020
Mental retardation, autosomal dominant 191Apr 26, 2017
Mental retardation, autosomal dominant 222Feb 15, 2019
Mental retardation, autosomal dominant 233Apr 26, 2017
Mental retardation, autosomal dominant 262Oct 17, 2019
Mental retardation, autosomal dominant 271Feb 15, 2019
Mental retardation, autosomal dominant 291Oct 29, 2021
Mental retardation, autosomal dominant 316Oct 29, 2021
Mental retardation, autosomal dominant 352Oct 21, 2020
Mental retardation, autosomal dominant 361Apr 26, 2017
Mental retardation, autosomal dominant 391Feb 15, 2019
Mental retardation, autosomal dominant 401Oct 17, 2019
Mental retardation, autosomal dominant 412Jul 3, 2017
Mental retardation, autosomal dominant 431Feb 6, 2018
Mental retardation, autosomal dominant 441Feb 15, 2019
Mental retardation, autosomal dominant 54Dec 26, 2021
Mental retardation, autosomal dominant 61Oct 17, 2019
Mental retardation, autosomal dominant 76Oct 29, 2021
Mental retardation, autosomal recessive 131Apr 26, 2017
Mental retardation, autosomal recessive 181Feb 6, 2018
Mental retardation, autosomal recessive 271Oct 21, 2020
Mental retardation, autosomal recessive 401Apr 26, 2017
Mental retardation, autosomal recessive 432Jun 3, 2019
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Oct 17, 2019
Mental retardation, syndromic, Claes-Jensen type, X-linked5Oct 29, 2021
Mental retardation, with or without seizures, ARX-related, X-linked1Nov 26, 2018
Metachromatic leukodystrophy2Oct 29, 2021
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Oct 17, 2019
Microcephaly6Jun 14, 2021
Microcephaly 18, primary, autosomal dominant1Oct 21, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2Oct 21, 2020
Microphthalmia, isolated, with coloboma 51Apr 26, 2017
Microphthalmia, syndromic 121Feb 6, 2018
Midline facial cleft1Apr 26, 2021
Mirage syndrome1Feb 6, 2018
Mitochondrial complex III deficiency, nuclear type 51Feb 15, 2019
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Mar 21, 2021
Moderate global developmental delay15Aug 27, 2019
Motor delay2Jun 14, 2021
Mowat-Wilson syndrome1Oct 26, 2017
Mucopolysaccharidosis, MPS-II1Nov 26, 2018
Mulibrey nanism syndrome1Apr 26, 2017
Multiple congenital anomalies-hypotonia-seizures syndrome 12Jul 31, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 21Mar 21, 2021
Multiple endocrine neoplasia, type 2b4Nov 26, 2018
Multiple epiphyseal dysplasia type 41Oct 21, 2020
Multiple fibrofolliculomas2Nov 26, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Jul 3, 2017
Muscular hypotonia2Jun 14, 2021
Myasthenic syndrome, congenital, 20, presynaptic1Feb 6, 2018
Myhre syndrome1Feb 6, 2018
Myoclonic-atonic epilepsy2Apr 26, 2017
Myopathy1Jun 14, 2021
Myopathy, early-onset, with fatal cardiomyopathy6Mar 21, 2021
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2Apr 26, 2017
N-terminal acetyltransferase deficiency1Feb 6, 2018
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES2Oct 29, 2021
Nail-patella syndrome1Apr 26, 2017
Nance-Horan syndrome1Apr 26, 2017
Nemaline myopathy 22Oct 17, 2019
Neonatal hypotonia2Jun 14, 2021
Neonatal respiratory distress3Jun 14, 2021
Nephronophthisis 121Apr 26, 2017
Nephropathy with pretibial epidermolysis bullosa and deafness1Oct 21, 2020
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 disorder with hypotonia and variable intellectual and behavioral abnormalities1Oct 29, 2021
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Feb 15, 2019
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 seizures1Oct 21, 2020
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Oct 17, 2019
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities2Oct 20, 2020
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Oct 21, 2020
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation1Feb 15, 2019
Neurofibromatosis, type 11Feb 15, 2019
Neuronal ceroid lipofuscinosis 13Apr 26, 2017
Neuronal ceroid lipofuscinosis 32Apr 26, 2017
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 16Mar 21, 2021
Noonan syndrome 41Jun 14, 2021
Noonan syndrome 72Oct 21, 2020
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 syndrome1Oct 20, 2020
Ocular albinism, type I1Oct 29, 2021
Ocular albinism, type II1Jun 14, 2021
Okur-chung neurodevelopmental syndrome2Feb 6, 2018
Opitz GBBB syndrome, type I1Oct 29, 2021
Opitz GBBB syndrome, type II2Oct 17, 2019
Optic atrophy1Jun 14, 2021
Ornithine carbamoyltransferase deficiency1Oct 17, 2019
Orofaciodigital syndrome I8Oct 21, 2020
Osteogenesis imperfecta1Jun 14, 2021
Osteogenesis imperfecta with normal sclerae, dominant form1Oct 29, 2021
Overgrowth1Apr 8, 2015
PIK3CA related overgrowth spectrum3Jan 10, 2021
Paragangliomas 43Nov 26, 2018
Parkinson disease, late-onset1Oct 29, 2021
Partial congenital absence of teeth1Jun 14, 2021
Pelizaeus-Merzbacher disease2Oct 26, 2017
Pena-Shokeir syndrome type I2Feb 6, 2018
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 syndrome3Apr 26, 2017
Poikiloderma with neutropenia1Feb 6, 2018
Poirier-Bienvenu neurodevelopmental syndrome1Oct 21, 2020
Polycystic kidney disease 21Oct 29, 2021
Polycystic kidney disease, adult type1Oct 29, 2021
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract2Jul 3, 2017
Pontocerebellar hypoplasia, type 1D1Mar 21, 2021
Porencephaly1Jun 14, 2021
Preauricular skin tag1Apr 26, 2021
Primary ciliary dyskinesia1Jun 14, 2021
Progressive cerebellar ataxia1May 15, 2019
Progressive sclerosing poliodystrophy2Mar 21, 2021
Proopiomelanocortin deficiency2Feb 15, 2019
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 tubular dysgenesis1Feb 6, 2018
Retinitis pigmentosa 151Oct 17, 2019
Retinitis pigmentosa 181Oct 21, 2020
Retinitis pigmentosa 41Oct 17, 2019
Rett syndrome4Oct 29, 2021
Rett syndrome, congenital variant1Oct 26, 2017
Rigidity and multifocal seizure syndrome, lethal neonatal4Feb 15, 2019
Rothmund-Thomson syndrome3Feb 6, 2018
Rubinstein-Taybi syndrome 15Oct 29, 2021
Rubinstein-Taybi syndrome 23Feb 15, 2019
STAG1-related disorder10Apr 13, 2017
Saethre-Chotzen syndrome1Oct 17, 2019
Schinzel-Giedion syndrome1Mar 21, 2021
Schuurs-hoeijmakers syndrome1Feb 15, 2019
Scrotal hypoplasia1Apr 26, 2017
Seizures12Jun 14, 2021
Seizures, benign familial infantile, 22Mar 21, 2021
Seizures, benign familial infantile, 31Mar 21, 2021
Seizures, benign familial infantile, 51Feb 15, 2019
Severe X-linked myotubular myopathy1Mar 21, 2021
Severe global developmental delay18Apr 6, 2020
Severe myoclonic epilepsy in infancy1Oct 17, 2019
Severe neonatal-onset encephalopathy with microcephaly1Jun 14, 2021
Shashi-Pena syndrome2Feb 15, 2019
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1Apr 26, 2017
Short-rib thoracic dysplasia 3 with or without polydactyly2Oct 29, 2021
Shprintzen-Goldberg syndrome2Feb 15, 2019
Sick sinus syndrome 1, autosomal recessive1Apr 26, 2017
Simpson-Golabi-Behmel syndrome type 11Nov 26, 2018
Skin tags3Apr 26, 2021
Skraban-Deardorff syndrome1Oct 17, 2019
Smith-Lemli-Opitz syndrome5Oct 29, 2021
Sorbitol dehydrogenase deficiency with peripheral neuropathy1Jun 14, 2021
Sotos syndrome 15Jun 14, 2021
Sotos syndrome 22Apr 6, 2020
Spastic paraplegia 11, autosomal recessive2Jul 3, 2017
Spastic paraplegia 171Oct 29, 2021
Spastic paraplegia 31, autosomal dominant1Jul 3, 2017
Spastic paraplegia 4, autosomal dominant2Oct 29, 2021
Spastic paraplegia 52, autosomal recessive1Oct 29, 2021
Spastic paraplegia 80, autosomal dominant1Oct 17, 2019
Specific learning disability1Apr 6, 2020
Spinal muscular atrophy with congenital bone fractures 21Oct 29, 2021
Spinocerebellar Ataxia Type 151Oct 29, 2021
Spinocerebellar ataxia type 19/221Oct 17, 2019
Spinocerebellar ataxia type 281Oct 17, 2019
Spinocerebellar ataxia type 52Oct 17, 2019
Spinocerebellar ataxia, autosomal recessive 102Apr 26, 2017
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
Stomatin-deficient cryohydrocytosis with neurologic defects1Feb 15, 2019
Sudden infant death with dysgenesis of the testes syndrome2Dec 2, 2020
Symphalangism, proximal, 1A1Jun 14, 2021
Syndromic X-linked intellectual disability Siderius type1Apr 26, 2017
Syndromic X-linked mental retardation, Cabezas type2Oct 26, 2017
Syndromic microphthalmia type 52Feb 15, 2019
Takenouchi-Kosaki syndrome1Feb 15, 2019
Tatton-Brown-rahman syndrome1Feb 6, 2018
Tay-Sachs disease1Feb 6, 2018
Temple-Baraitser syndrome1Feb 6, 2018
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
Turnpenny-fry syndrome1Oct 17, 2019
Ulnar deviation of the wrist3Jul 18, 2017
Upper eyelid coloboma1Apr 26, 2021
Urofacial syndrome 21Feb 15, 2019
Usher syndrome, type 2C1Oct 17, 2019
Ventriculomegaly1Jun 14, 2021
Verheij syndrome3Apr 6, 2020
Vertebral, cardiac, tracheoesophageal, renal, and limb defects1Oct 29, 2021
Visceral myopathy1Apr 26, 2017
Vissers-Bodmer syndrome1Oct 21, 2020
Waardenburg syndrome type 2A1Jul 3, 2017
Weaver syndrome1Oct 29, 2021
White-sutton syndrome7Oct 29, 2021
Wiedemann-Steiner syndrome4Oct 17, 2019
Witteveen-kolk syndrome1Oct 29, 2021
Wolfram-like syndrome, autosomal dominant1Jul 3, 2017
Xia-Gibbs syndrome4Oct 17, 2019
Zimmermann-Laband syndrome 11Feb 6, 2018
brain structure abnormalities1Oct 20, 2020
facial dysmorphism1Apr 8, 2015
learning disabilities1Apr 8, 2015
van der Woude syndrome 14Oct 29, 2021
von Willebrand disease type 11Oct 17, 2019
von Willebrand disease type 21Nov 26, 2018
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