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: 788

Gene

GeneSubmissionsLast Updated
ABCA121Feb 6, 2018
ABCC92Jul 3, 2017
ABHD122Jul 3, 2017
ACE1Feb 6, 2018
ACTB2Oct 20, 2020
ACTG21Apr 26, 2017
ADGRV11Oct 17, 2019
ADNP1Apr 26, 2017
AFF41Feb 15, 2019
AFG3L21Oct 17, 2019
AHDC15Oct 17, 2019
ALDH18A11Feb 6, 2018
ALMS14Feb 6, 2018
ALX31Feb 6, 2018
AMFR1May 15, 2019
ANKRD116Feb 15, 2019
ANO102Apr 26, 2017
AP3B22Apr 26, 2017
APC1Nov 26, 2018
APOB1May 15, 2019
ARHGEF261May 15, 2019
ARHGEF92Jul 3, 2017
ARID1A2May 15, 2019
ARID1B6Oct 17, 2019
ARX1Nov 26, 2018
ASXL12Feb 6, 2018
ASXL22Feb 15, 2019
ASXL31May 15, 2019
ATIC2Apr 26, 2017
ATL11Oct 17, 2019
ATP1A12May 15, 2019
ATP1A1-AS11May 15, 2019
ATRIP1Feb 6, 2018
ATRIP-TREX11Feb 6, 2018
ATRX2Nov 26, 2018
ATXN2L1May 15, 2019
AUTS22Oct 17, 2019
B3GLCT2May 15, 2019
BCL11A4May 15, 2019
BEGAIN1May 15, 2019
BRAF4Oct 21, 2020
BRAT14Feb 15, 2019
BRCA12Oct 17, 2019
BRCA28Oct 17, 2019
BRPF11Feb 6, 2018
BSCL21Feb 15, 2019
CACNA1S1Nov 26, 2018
CAMK2A1Feb 15, 2019
CAMTA12Oct 20, 2020
CAV31Nov 26, 2018
CCND21Feb 15, 2019
CD1511Oct 21, 2020
CDAN12Oct 17, 2019
CDC421Feb 15, 2019
CDH51May 15, 2019
CDK134Oct 21, 2020
CDK81Oct 20, 2020
CDKL51Apr 6, 2020
CEP551Oct 21, 2020
CERS21May 15, 2019
CFTR5Oct 17, 2019
CFTR-AS11Oct 17, 2019
CHAMP11Oct 17, 2019
CHD21Oct 21, 2020
CHD31May 15, 2019
CHD71Apr 26, 2017
CHD83Oct 17, 2019
CIC1May 15, 2019
CIT1May 15, 2019
CLCN41Oct 17, 2019
CLDN111May 15, 2019
CLDN91Aug 17, 2020
CLN32Apr 26, 2017
CNGA31Oct 21, 2020
CNOT12Oct 21, 2020
CNP1May 15, 2019
COG71Oct 17, 2019
COL2A12Oct 17, 2019
COL3A11Feb 15, 2019
COL4A12Oct 20, 2020
COL4A31Oct 20, 2020
COL4A51Feb 15, 2019
COL6A11Feb 6, 2018
COL6A31May 15, 2019
COQ8A4Apr 26, 2017
CPEB1-AS12Apr 26, 2017
CRAT1Feb 15, 2019
CREBBP5Oct 17, 2019
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
DDX3X7May 15, 2019
DEPDC52Oct 17, 2019
DES1Nov 26, 2018
DHCR72Feb 6, 2018
DKK31May 15, 2019
DLG43May 15, 2019
DLL11Oct 21, 2020
DLL31Feb 6, 2018
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
DUSP291Feb 6, 2018
DYM1Feb 15, 2019
DYNC1H13Oct 17, 2019
DYRK1A4Feb 15, 2019
DYSF2Feb 6, 2018
EBF31Jul 3, 2017
EEF1A21Apr 26, 2017
EFEMP21Oct 20, 2020
EFNB11Feb 6, 2018
EHMT15May 15, 2019
EIF2S31Sep 24, 2019
EMILIN31May 15, 2019
ENG1Nov 26, 2018
EP3003Feb 15, 2019
ERCC22Feb 6, 2018
F111Oct 17, 2019
F11-AS11Oct 17, 2019
FAM83H1May 15, 2019
FBN21May 15, 2019
FBXO111May 15, 2019
FGFR22Feb 6, 2018
FIBP1Apr 8, 2015
FKBP81May 15, 2019
FLCN2Nov 26, 2018
FLNA1Feb 15, 2019
FLNB2Feb 6, 2018
FOXC11Feb 15, 2019
FOXG11Oct 26, 2017
FOXL21Feb 6, 2018
FOXP11Feb 6, 2018
FOXP31Feb 15, 2019
FPGT-TNNI3K1Apr 26, 2017
FUT81Oct 20, 2020
GABRA12May 15, 2019
GATAD2B3Oct 20, 2020
GCH11Nov 26, 2018
GDF61Oct 17, 2019
GFER2Apr 26, 2017
GLMN1Feb 6, 2018
GLT8D21May 15, 2019
GNAO11Apr 26, 2017
GPC31Nov 26, 2018
GPD1L1Nov 26, 2018
GRHL31Oct 26, 2017
GRIN2B1Oct 17, 2019
H1-41Oct 17, 2019
HCN11Oct 26, 2017
HDAC81Feb 6, 2018
HDLBP1May 15, 2019
HECW21Feb 15, 2019
HES71Feb 6, 2018
HEXA1Feb 6, 2018
HFE1Oct 17, 2019
HIVEP21Feb 6, 2018
HMBS1Nov 26, 2018
HNRNPK1Feb 15, 2019
HNRNPU1Feb 6, 2018
HNRNPUL2-BSCL21Feb 15, 2019
HPDL2Oct 20, 2020
HPS31Apr 26, 2017
HUWE11Oct 17, 2019
IDS1Nov 26, 2018
IFT1221Oct 21, 2020
INF21Oct 17, 2019
IQSEC21Jul 3, 2017
IRF62Feb 6, 2018
JAM31Oct 17, 2019
KANSL12Jul 3, 2017
KAT6A2Feb 6, 2018
KAT6B2Feb 6, 2018
KCNA21Apr 26, 2017
KCNB13May 15, 2019
KCND31Oct 17, 2019
KCNE21Nov 26, 2018
KCNH11Feb 6, 2018
KCNQ14Feb 15, 2019
KCNQ1-AS12Nov 26, 2018
KCNQ23Oct 20, 2020
KCNQ32Jun 17, 2019
KCNT11Oct 26, 2017
KDM5C3Feb 6, 2018
KDM6A1Feb 6, 2018
KIF112Oct 21, 2020
KIF1A2Feb 15, 2019
KLHL74Jul 18, 2017
KMT2A4Oct 17, 2019
KMT2D2Feb 6, 2018
KMT2E1Oct 20, 2020
KMT5B1Feb 15, 2019
LARP73May 14, 2018
LCT1Oct 21, 2020
LEPR1Feb 15, 2019
LHCGR2Oct 17, 2019
LINS11Oct 21, 2020
LMBRD21Oct 20, 2020
LMNA2Nov 26, 2018
LMX1B1Apr 26, 2017
LOC1001298781Feb 15, 2019
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
LSS1Oct 21, 2020
MAB21L11Apr 26, 2017
MAN2B14Feb 6, 2018
MAP2K11Oct 17, 2019
MAPK8IP31Oct 17, 2019
MEA12Oct 21, 2020
MECP23Oct 20, 2020
MED121Apr 26, 2017
MED13L6Oct 17, 2019
MED231Feb 6, 2018
MEF2C1Oct 17, 2019
METTL11B1May 15, 2019
MFF-DT1Oct 20, 2020
MIR302CHG2May 14, 2018
MITF1Jul 3, 2017
MLH31Nov 26, 2018
MRE111Apr 26, 2017
MSL311Oct 17, 2019
MT-ATP61May 15, 2019
MT-ND41May 15, 2019
MT-ND62May 15, 2019
MT-RNR12May 15, 2019
MT-TS11May 15, 2019
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
MYT1L1Feb 15, 2019
NAA102Feb 6, 2018
NBEA1Apr 26, 2017
NCSTN1Feb 6, 2018
NEB2Oct 17, 2019
NEFL1Oct 17, 2019
NEU31May 15, 2019
NEXMIF1Oct 26, 2017
NF11Feb 15, 2019
NF21May 15, 2019
NFIB1May 15, 2019
NFIX6Apr 6, 2020
NGLY12Apr 26, 2017
NHS1Apr 26, 2017
NIPBL3Oct 21, 2020
NPHS11Feb 6, 2018
NR2F15Oct 17, 2019
NR5A11Apr 26, 2017
NSD16Oct 17, 2019
NUP2052May 15, 2019
OCRL2Feb 15, 2019
OFD19Oct 21, 2020
OTC1Oct 17, 2019
OTUD6B1Feb 6, 2018
OTUD7A2Apr 6, 2020
OTX22Feb 15, 2019
PACS11Feb 15, 2019
PACS21Feb 27, 2018
PAEP1Feb 15, 2019
PAH5May 15, 2019
PANK21Feb 15, 2019
PAX91Apr 26, 2017
PBX12Feb 15, 2019
PCGF21Oct 17, 2019
PCSK91Nov 26, 2018
PDZD91Feb 15, 2019
PGAP22Oct 17, 2019
PGAP33Oct 20, 2020
PHF62Oct 17, 2019
PHF81Apr 26, 2017
PHIP1Oct 17, 2019
PHKA21Oct 17, 2019
PICALM1May 15, 2019
PIK3CA1Feb 6, 2018
PKD1L21May 15, 2019
PKHD14Feb 6, 2018
PKP22Oct 17, 2019
PLP12Oct 26, 2017
PMS21Feb 6, 2018
PNPLA61May 15, 2019
PNPO1Feb 15, 2019
POC1A1Apr 26, 2017
POGZ5Feb 15, 2019
POMC2Feb 15, 2019
POMGNT21Jul 3, 2017
PPM1D2Oct 21, 2020
PPP1CB1Oct 17, 2019
PPP2R1A1Apr 26, 2017
PPP2R5C1Apr 26, 2017
PPP2R5D2Oct 21, 2020
PPT13Apr 26, 2017
PROS11Nov 26, 2018
PRPF31Oct 21, 2020
PRRX11Oct 20, 2020
PRUNE11Feb 15, 2019
PSEN11Oct 21, 2020
PTPN116Oct 17, 2019
PUF603Apr 6, 2020
PURA4Apr 6, 2020
PYCR12Oct 17, 2019
PYGL1Oct 17, 2019
RAB9B2Oct 26, 2017
RAC31Oct 21, 2020
RAD211Feb 6, 2018
RALGAPB1May 15, 2019
RANBP101May 15, 2019
RARB1Feb 6, 2018
RBM201Oct 21, 2020
RECQL43Feb 6, 2018
REEP11Jul 3, 2017
RET5Feb 15, 2019
RHO1Oct 17, 2019
RNASEH2B1Apr 26, 2017
RPGR1Oct 17, 2019
RPS6KA32Nov 26, 2018
RYR22Oct 20, 2020
SACS2Feb 6, 2018
SAMD91Feb 6, 2018
SATB11May 15, 2019
SATB22Feb 15, 2019
SCN1A2Oct 17, 2019
SCN2A6Oct 20, 2020
SCN3B1Nov 26, 2018
SCN5A7Nov 26, 2018
SDHB3Nov 26, 2018
SETD53Apr 26, 2017
SGCD2Nov 26, 2018
SH3TC24Oct 17, 2019
SHH1Apr 26, 2017
SHOC21Apr 26, 2017
SIDT11May 15, 2019
SKI2Feb 15, 2019
SLC13A53Apr 26, 2017
SLC16A11Oct 17, 2019
SLC16A22Feb 6, 2018
SLC26A21Oct 21, 2020
SLC2A12Feb 15, 2019
SLC2A101Oct 20, 2020
SLC5A71Feb 6, 2018
SLC6A13May 15, 2019
SLC6A82Feb 15, 2019
SMAD41Feb 6, 2018
SMARCA22Oct 21, 2020
SMARCA41Apr 26, 2017
SMARCB11Feb 6, 2018
SMARCE11Feb 6, 2018
SMC31Oct 17, 2019
SMO2Oct 20, 2020
SNHG142Feb 6, 2018
SNHG311Feb 6, 2018
SNTA11Nov 26, 2018
SOX111Feb 15, 2019
SOX51Jul 3, 2017
SOX91Feb 6, 2018
SPAG91May 15, 2019
SPAST1Oct 17, 2019
SPATA51Feb 15, 2019
SPECC1L2Oct 17, 2019
SPECC1L-ADORA2A2Oct 17, 2019
SPG112Jul 3, 2017
SPR1Apr 26, 2017
SPTBN22Oct 17, 2019
SRCAP1Feb 6, 2018
ST3GAL51Apr 26, 2017
STAG110Apr 13, 2017
STK111May 15, 2019
STON1-GTF2A1L2Oct 17, 2019
STXBP11Oct 26, 2017
SYN13Oct 17, 2019
SYNGAP13Apr 6, 2020
TAF12May 15, 2019
TAF21Apr 26, 2017
TAPBPL1May 15, 2019
TBL1XR12Jul 3, 2017
TBR134Aug 27, 2019
TBX41Oct 20, 2020
TCF201Oct 21, 2020
TCF43Apr 26, 2017
TET31Oct 21, 2020
TFAP2A1Feb 6, 2018
TFAP2A-AS21Feb 6, 2018
TGDS1Oct 20, 2020
THOC62Apr 26, 2017
TLK21Oct 17, 2019
TMCO11Feb 6, 2018
TNNI3K1Apr 26, 2017
TNNT22Nov 26, 2018
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
TSC11Nov 26, 2018
TSPAN71Nov 26, 2018
TSPYL12Dec 2, 2020
TTC21B1Apr 26, 2017
TTC21B-AS11Apr 26, 2017
TTN2Apr 26, 2017
TTN-AS12Apr 26, 2017
TTPA1Apr 26, 2017
TUBB2A1Feb 15, 2019
TUBB33Apr 26, 2017
TWIST11Oct 17, 2019
UBAP11Oct 17, 2019
UBE3A3Feb 15, 2019
UBE3B1Apr 26, 2017
UQCRC21Feb 15, 2019
USB11Feb 6, 2018
VCP1Jul 3, 2017
VPS13B10Feb 6, 2018
VWF2Oct 17, 2019
WASHC42Jun 3, 2019
WASHC51Feb 15, 2019
WDFY31Oct 21, 2020
WDR261Oct 17, 2019
WDR451Feb 15, 2019
WFS11Jul 3, 2017
WSCD21May 15, 2019
YARS21Apr 26, 2017
ZBTB183May 15, 2019
ZBTB208Jun 17, 2019
ZBTB461May 15, 2019
ZEB23May 15, 2019
ZNF1481Feb 15, 2019
ZSWIM61Feb 6, 2018

Condition

NameSubmissionsLast Updated
46,XY sex reversal, type 31Apr 26, 2017
AICAR transformylase/IMP cyclohydrolase deficiency2Apr 26, 2017
AU-KLINE SYNDROME1Feb 15, 2019
Abdominal obesity-metabolic syndrome 31Oct 26, 2017
Abnormal brainstem MRI signal intensity1Aug 27, 2019
Abnormal facial shape1Jan 9, 2019
Absent speech1Jan 9, 2019
Achromatopsia 21Oct 21, 2020
Acromelic frontonasal dysostosis1Feb 6, 2018
Acute intermittent porphyria1Nov 26, 2018
Adams-Oliver syndrome 21Oct 21, 2020
Aggressive behavior3Aug 27, 2019
Agnathia-otocephaly complex1Oct 20, 2020
Aicardi Goutieres syndrome 11Feb 6, 2018
Aicardi Goutieres syndrome 21Apr 26, 2017
Alazami syndrome3May 14, 2018
Allan-Herndon-Dudley syndrome2Feb 6, 2018
Alopecia-mental retardation 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
Aminoglycoside-induced deafness2May 15, 2019
Angelman syndrome2Feb 6, 2018
Aortic aneurysm, familial thoracic 71Nov 26, 2018
Aplasia/Hypoplasia of the corpus callosum1Jan 9, 2019
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
Ataxia-telangiectasia-like disorder 11Apr 26, 2017
Attention deficit hyperactivity disorder2Aug 27, 2019
Autism, susceptibility to, 182Oct 17, 2019
Autistic behavior24Aug 27, 2019
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
Baraitser-Winter syndrome 12Oct 20, 2020
Beaulieu-Boycott-Innes syndrome2Apr 26, 2017
Beck-Fahrner syndrome1Oct 21, 2020
Behavioral abnormality1Jan 9, 2019
Bethlem myopathy 11Feb 6, 2018
Blepharophimosis - intellectual disability syndrome, SBBYS type2Feb 6, 2018
Blepharophimosis intellectual disability syndrome1Oct 20, 2020
Blepharophimosis, ptosis, and epicanthus inversus1Feb 6, 2018
Bohring-Opitz syndrome2Feb 6, 2018
Borjeson-Forssman-Lehmann syndrome2Oct 17, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome5Oct 17, 2019
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 association1Apr 26, 2017
CODAS syndrome2Oct 17, 2019
COG7 congenital disorder of glycosylation1Oct 17, 2019
Camptomelic dysplasia1Feb 6, 2018
Cardiac conduction disease with or without dilated cardiomyopathy1Apr 26, 2017
Cardiac valvular dysplasia, X-linked1Feb 15, 2019
Cardiofaciocutaneous syndrome 12Feb 15, 2019
Cardiofaciocutaneous syndrome 31Oct 17, 2019
Cataract, autosomal dominant1Oct 21, 2020
Catel Manzke syndrome1Oct 20, 2020
Cerebellar ataxia, nonprogressive, with mental retardation2Oct 20, 2020
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 G1Oct 17, 2019
Charcot-Marie-Tooth disease, type 4C4Oct 17, 2019
Charlevoix-Saguenay spastic ataxia2Feb 6, 2018
Chops syndrome1Feb 15, 2019
Chromosome 15q11-q13 duplication syndrome1Feb 15, 2019
Chromosome 2q32-q33 deletion syndrome2Feb 15, 2019
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Nov 26, 2018
Coenzyme Q10 deficiency, primary, 44Apr 26, 2017
Coffin-Lowry syndrome1Feb 6, 2018
Coffin-Siris syndrome 14Oct 17, 2019
Coffin-Siris syndrome 51Feb 6, 2018
Cohen syndrome10Feb 6, 2018
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay2Feb 15, 2019
Congenital disorder of deglycosylation2Apr 26, 2017
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 disorder3Oct 21, 2020
Congenital lactase deficiency1Oct 21, 2020
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1Feb 6, 2018
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
Cortical dysplasia1Jan 9, 2019
Cortical dysplasia, complex, with other brain malformations 12Apr 26, 2017
Cortical dysplasia, complex, with other brain malformations 51Feb 15, 2019
Coxopodopatellar syndrome1Oct 20, 2020
Cranioectodermal dysplasia 11Oct 21, 2020
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1Feb 6, 2018
Craniofrontonasal syndrome1Feb 6, 2018
Creatine transporter deficiency2Feb 15, 2019
Cutis laxa, autosomal recessive IIIA1Feb 6, 2018
Cystic fibrosis5Oct 17, 2019
Deafness, autosomal recessive 31Feb 6, 2018
Deficiency of alpha-mannosidase4Feb 6, 2018
Delayed fine motor development5Aug 27, 2019
Developmental and epileptic encephalopathy, 652Oct 17, 2019
Developmental delay1Oct 20, 2020
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 features1Oct 17, 2019
Dilated cardiomyopathy 1A2Nov 26, 2018
Dilated cardiomyopathy 1DD1Oct 21, 2020
Dilated cardiomyopathy 1I1Nov 26, 2018
Dilated cardiomyopathy 1L2Nov 26, 2018
Distal arthrogryposis1Apr 26, 2017
Distal hereditary motor neuronopathy type 52Feb 15, 2019
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 115Oct 20, 2020
Early infantile epileptic encephalopathy 141Oct 26, 2017
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
Ehlers-Danlos syndrome, type 41Feb 15, 2019
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, hearing loss, and mental retardation syndrome1Feb 15, 2019
Epileptic encephalopathy4Apr 6, 2020
Epileptic encephalopathy, childhood-onset1Oct 21, 2020
Epileptic encephalopathy, early infantile, 191Apr 26, 2017
Epileptic encephalopathy, early infantile, 241Oct 26, 2017
Epileptic encephalopathy, early infantile, 253Apr 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, 331Apr 26, 2017
Epileptic encephalopathy, early infantile, 541Feb 6, 2018
Exercise-induced hyperinsulinism1Oct 17, 2019
Exudative vitreoretinopathy 41Oct 21, 2020
FG syndrome 11Apr 26, 2017
Familial acne inversa 11Feb 6, 2018
Familial adenomatous polyposis 11Nov 26, 2018
Familial cancer of breast2Oct 17, 2019
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
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
Gait ataxia2Aug 27, 2019
Gait disturbance2Aug 27, 2019
Generalized epilepsy with febrile seizures plus, type 21Feb 6, 2018
Generalized hypotonia1Jan 9, 2019
Global developmental delay1Oct 17, 2019
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Feb 15, 2019
Glomuvenous malformations1Feb 6, 2018
Glycogen storage disease type IXa11Oct 17, 2019
Glycogen storage disease, type VI1Oct 17, 2019
Hamartoma of hypothalamus2Oct 20, 2020
Hearing loss1Aug 17, 2020
Helsmoortel-Van der Aa Syndrome1Apr 26, 2017
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
Hypertelorism, Teebi type1Oct 17, 2019
Hypertrichotic osteochondrodysplasia Cantu type2Jul 3, 2017
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 syndrome1Jul 3, 2017
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11Jul 3, 2017
Inflexible adherence to routines or rituals1Jan 9, 2019
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Feb 15, 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 threshold2Oct 21, 2020
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Oct 20, 2020
Intellectual developmental disorder with persistence of fetal hemoglobin3Feb 15, 2019
Intellectual disability15Jun 17, 2019
Intellectual disability, autosomal dominant 511Feb 15, 2019
Intellectual disability, autosomal dominant 531Feb 15, 2019
Intellectual disability, autosomal dominant 92Feb 15, 2019
Intellectual disability, severe1Apr 26, 2017
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome7Jun 17, 2019
KBG syndrome6Feb 15, 2019
Kabuki syndrome 12Feb 6, 2018
Kabuki syndrome 21Feb 6, 2018
Kaufman oculocerebrofacial syndrome1Apr 26, 2017
Kleefstra syndrome 14Feb 15, 2019
Klippel-Feil syndrome 1, autosomal dominant1Oct 17, 2019
Koolen-de Vries syndrome2Jul 3, 2017
LEOPARD syndrome 12Oct 17, 2019
Lamb-shaffer syndrome1Jul 3, 2017
Language impairment1Apr 6, 2020
Large hands1Apr 8, 2015
Leber's 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
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
Lowe syndrome2Feb 15, 2019
MEHMO syndrome1Sep 24, 2019
Macrocephalus2Jul 3, 2017
Malignant tumor of prostate1Oct 17, 2019
Marfan syndrome1Apr 26, 2017
Marfanoid habitus and intellectual disability78May 15, 2019
Marshall-Smith syndrome1Feb 6, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Feb 15, 2019
Menke-Hennekam syndrome 11Oct 17, 2019
Mental retardation 49, X-linked1Oct 17, 2019
Mental retardation 58, X-linked1Nov 26, 2018
Mental retardation and distinctive facial features with or without cardiac defects5Oct 17, 2019
Mental retardation with language impairment and with or without autistic features1Feb 6, 2018
Mental retardation, X-linked 11Jul 3, 2017
Mental retardation, X-linked 1026Feb 15, 2019
Mental retardation, X-linked 191Nov 26, 2018
Mental retardation, X-linked 981Oct 26, 2017
Mental retardation, X-linked, syndromic 331Jul 3, 2017
Mental retardation, autosomal dominant 132Oct 17, 2019
Mental retardation, autosomal dominant 141Feb 6, 2018
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 314Apr 6, 2020
Mental retardation, autosomal dominant 322Feb 6, 2018
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 52Apr 6, 2020
Mental retardation, autosomal dominant 571Oct 17, 2019
Mental retardation, autosomal dominant 61Oct 17, 2019
Mental retardation, autosomal dominant 74Feb 15, 2019
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-linked3Feb 6, 2018
Mental retardation, with or without seizures, ARX-related, X-linked1Nov 26, 2018
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Oct 17, 2019
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
Mirage syndrome1Feb 6, 2018
Mitochondrial complex III deficiency, nuclear type 51Feb 15, 2019
Moderate global developmental delay15Aug 27, 2019
Motor delay1Oct 20, 2020
Mowat-Wilson syndrome1Oct 26, 2017
Mucopolysaccharidosis, MPS-II1Nov 26, 2018
Mulibrey nanism syndrome1Apr 26, 2017
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
Myasthenic syndrome, congenital, 20, presynaptic1Feb 6, 2018
Myhre syndrome1Feb 6, 2018
Myoclonic-atonic epilepsy2Apr 26, 2017
Myopathy, early-onset, with fatal cardiomyopathy2Apr 26, 2017
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2Apr 26, 2017
N-terminal acetyltransferase deficiency1Feb 6, 2018
Nail-patella syndrome1Apr 26, 2017
Nance-Horan syndrome1Apr 26, 2017
Nemaline myopathy 22Oct 17, 2019
Nephronophthisis 121Apr 26, 2017
Nephropathy with pretibial epidermolysis bullosa and deafness1Oct 21, 2020
Neurodegeneration with brain iron accumulation 51Feb 15, 2019
Neurodegeneration with brain iron accumulation 81Feb 15, 2019
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Feb 15, 2019
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
Neurofibromatosis, type 11Feb 15, 2019
Neuronal ceroid lipofuscinosis 13Apr 26, 2017
Neuronal ceroid lipofuscinosis 32Apr 26, 2017
Nicolaides-Baraitser syndrome1Oct 21, 2020
Noonan syndrome 15Oct 17, 2019
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
Okur-chung neurodevelopmental syndrome2Feb 6, 2018
Opitz GBBB syndrome, type II2Oct 17, 2019
Ornithine carbamoyltransferase deficiency1Oct 17, 2019
Orofaciodigital syndrome I8Oct 21, 2020
Overgrowth1Apr 8, 2015
Paragangliomas 43Nov 26, 2018
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
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract2Jul 3, 2017
Progressive cerebellar ataxia1May 15, 2019
Proopiomelanocortin deficiency2Feb 15, 2019
Rahman syndrome1Oct 17, 2019
Renal dysplasia1Feb 6, 2018
Retinitis pigmentosa 151Oct 17, 2019
Retinitis pigmentosa 181Oct 21, 2020
Retinitis pigmentosa 41Oct 17, 2019
Rett syndrome3Oct 20, 2020
Rett syndrome, congenital variant1Oct 26, 2017
Rigidity and multifocal seizure syndrome, lethal neonatal4Feb 15, 2019
Rothmund-Thomson syndrome3Feb 6, 2018
Rubinstein-Taybi syndrome 13Oct 17, 2019
Rubinstein-Taybi syndrome 23Feb 15, 2019
STAG1-related disorder10Apr 13, 2017
Saethre-Chotzen syndrome1Oct 17, 2019
Salt and pepper developmental regression syndrome1Apr 26, 2017
Schuurs-hoeijmakers syndrome1Feb 15, 2019
Scrotal hypoplasia1Apr 26, 2017
Seizures4Aug 27, 2019
Seizures, benign familial infantile, 51Feb 15, 2019
Severe global developmental delay18Apr 6, 2020
Severe myoclonic epilepsy in infancy1Oct 17, 2019
Shashi-Pena syndrome2Feb 15, 2019
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1Apr 26, 2017
Shprintzen-Goldberg syndrome2Feb 15, 2019
Sick sinus syndrome 1, autosomal recessive1Apr 26, 2017
Simpson-Golabi-Behmel syndrome type 11Nov 26, 2018
Skraban-Deardorff syndrome1Oct 17, 2019
Smith-Lemli-Opitz syndrome2Feb 6, 2018
Sotos syndrome 14Oct 17, 2019
Sotos syndrome 22Apr 6, 2020
Spastic paraplegia 11, autosomal recessive2Jul 3, 2017
Spastic paraplegia 31, autosomal dominant1Jul 3, 2017
Spastic paraplegia 4, autosomal dominant1Oct 17, 2019
Spastic paraplegia 80, autosomal dominant1Oct 17, 2019
Specific learning disability1Apr 6, 2020
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
Spondyloepiphyseal dysplasia tarda1Apr 26, 2017
Spondyloepiphyseal dysplasia, stanescu type1Apr 26, 2017
Spondylometaphyseal dysplasia1Oct 17, 2019
Stomatin-deficient cryohydrocytosis with neurologic defects1Feb 15, 2019
Sudden infant death with dysgenesis of the testes syndrome2Dec 2, 2020
Syndromic X-linked intellectual disability Siderius type1Apr 26, 2017
Syndromic X-linked intellectual disability Turner type1Oct 17, 2019
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
Urofacial syndrome 21Feb 15, 2019
Usher syndrome, type 2C1Oct 17, 2019
Van der Woude syndrome3Feb 6, 2018
Verheij syndrome3Apr 6, 2020
Visceral myopathy1Apr 26, 2017
Vissers-Bodmer syndrome1Oct 21, 2020
Waardenburg syndrome type 2A1Jul 3, 2017
White-sutton syndrome5Feb 15, 2019
Wiedemann-Steiner syndrome4Oct 17, 2019
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
von Willebrand disease type 11Oct 17, 2019
von Willebrand disease type 21Nov 26, 2018
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