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Centre de Biologie Pathologie Génétique (Centre Hospitalier Universitaire de Lille), CHRUL

General information

Centre de Biologie Pathologie Génétique, CHRUL
Centre Hospitalier Universitaire de Lille
Lille
Nord-Pas-de-Calais
France - 59000

Organization ID: 505759

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1598

Gene

GeneSubmissionsLast Updated
ABHD14A-ACY12May 5, 2020
ACSL41May 5, 2020
ACTA11Aug 9, 2022
ACTB2Aug 9, 2022
ACTG13Aug 9, 2022
ACVR11Aug 9, 2022
ACY12May 5, 2020
ADAT32May 5, 2020
ADCY51Aug 9, 2022
ADGRV11Aug 9, 2022
ADNP8Aug 9, 2022
ADNP-AS11May 5, 2020
ADSL1May 5, 2020
AFF23May 5, 2020
AFG2A2Aug 9, 2022
AFG2B2Aug 9, 2022
AGA4May 5, 2020
AGA-DT1May 5, 2020
AHDC110Aug 9, 2022
AHI16May 5, 2020
ALDH4A17May 5, 2020
ALDH5A13May 5, 2020
ALDH7A13Aug 9, 2022
ALG12May 5, 2020
ALG132May 5, 2020
AMPD22May 5, 2020
AMT2Aug 9, 2022
ANGPT21May 5, 2020
ANK29May 5, 2020
ANK39May 5, 2020
ANKH2May 5, 2020
ANKRD1119Aug 9, 2022
ANKRD171Aug 9, 2022
ANO53May 5, 2020
AP3B21May 5, 2020
AP4B13May 5, 2020
AP4B1-AS13May 5, 2020
AP4M12May 5, 2020
ARFGEF14Aug 9, 2022
ARFGEF1-DT2May 5, 2020
ARFGEF24May 5, 2020
ARHGEF61May 5, 2020
ARHGEF92Aug 9, 2022
ARID1A8Aug 9, 2022
ARID1B15Aug 9, 2022
ARID21Aug 9, 2022
ARSA3May 5, 2020
ARX1May 5, 2020
ASH1L9Aug 9, 2022
ASNS2Aug 9, 2022
ASPA1May 5, 2020
ASPM16May 5, 2020
ASXL15May 5, 2020
ASXL37Jun 24, 2021
ATIC1May 5, 2020
ATL12Aug 9, 2022
ATP1A11Aug 9, 2022
ATP1A1-AS11Aug 9, 2022
ATP1A33Aug 9, 2022
ATP1B11Jun 24, 2021
ATP6V1B21Aug 9, 2022
ATP7A3May 5, 2020
ATRX4May 5, 2020
ATXN7L3-AS11Aug 9, 2022
AUTS25Jun 24, 2021
AXIN210Mar 14, 2021
BCL11A4Aug 9, 2022
BCOR3May 5, 2020
BCORL11Jun 24, 2021
BICRA2Aug 9, 2022
BPTF2Aug 9, 2022
BRAF2Aug 9, 2022
BRAT17May 5, 2020
BRIP11Aug 9, 2022
BRPF17Aug 9, 2022
BRWD33May 5, 2020
BTD4May 5, 2020
C12orf571May 5, 2020
CA22Aug 9, 2022
CA3-AS11Aug 9, 2022
CACNA1A18Aug 9, 2022
CACNA1C1Aug 9, 2022
CACNA1D7May 5, 2020
CACNA1E1May 5, 2020
CACNA1G1Aug 9, 2022
CACNA1I1Jun 24, 2021
CAMK2A3Aug 9, 2022
CAMTA18Aug 9, 2022
CASK1May 5, 2020
CBL1Aug 9, 2022
CBS4May 5, 2020
CC2D1A4May 5, 2020
CCDC1341Sep 27, 2018
CCDC222May 5, 2020
CDH152May 5, 2020
CDK136Aug 9, 2022
CDK5RAP26May 5, 2020
CDKL51Aug 9, 2022
CENPF2Aug 9, 2022
CEP29013May 5, 2020
CERT11May 5, 2020
CHD27Aug 9, 2022
CHD34Aug 9, 2022
CHD44Jun 24, 2021
CHD52Aug 9, 2022
CHD79Aug 9, 2022
CHD89Aug 9, 2022
CHRNA21May 5, 2020
CHRNA41May 5, 2020
CHRNB21May 5, 2020
CIC5Aug 9, 2022
CLCN24May 5, 2020
CLN33May 5, 2020
CLN51May 5, 2020
CLN84May 5, 2020
CLTC1Jun 24, 2021
CNOT13Aug 9, 2022
CNOT33May 5, 2020
CNTNAP24Aug 9, 2022
COL2A12May 5, 2020
COQ8A1Jun 24, 2021
CPA63May 5, 2020
CRB14May 5, 2020
CRBN1May 5, 2020
CREBBP11May 5, 2020
CSNK2A14Aug 9, 2022
CTCF1May 5, 2020
CTNNB13Aug 9, 2022
CUL32Aug 9, 2022
CUL4B2May 5, 2020
CUX25May 5, 2020
CYP27A15Aug 5, 2024
CZ1P-ASNS2Aug 9, 2022
DDB11Aug 9, 2022
DDC1Jun 24, 2021
DDX3X6Aug 9, 2022
DDX51Jun 24, 2021
DEAF14Aug 9, 2022
DEPDC53May 5, 2020
DHCR71May 5, 2020
DHX161Aug 9, 2022
DLAT1Aug 9, 2022
DLG32May 5, 2020
DLG46Aug 9, 2022
DLL11Aug 9, 2022
DOCK613May 5, 2020
DOCK6-AS13May 5, 2020
DOCK815May 5, 2020
DPH11Aug 9, 2022
DPM11May 5, 2020
DPYD1Aug 9, 2022
DRP21Jun 24, 2021
DSCAM6May 5, 2020
DUSP291May 5, 2020
DYNC1H111Aug 9, 2022
DYNC2H114May 5, 2020
DYRK1A5Aug 9, 2022
EBF34May 5, 2020
EED1Aug 9, 2022
EEF1A22May 5, 2020
EHMT15May 5, 2020
EIF2AK21Jun 24, 2021
ELAVL21Jun 24, 2021
EP30012Aug 9, 2022
EPB41L13May 5, 2020
EPG51Jun 24, 2021
EPHB42Aug 9, 2022
EPM2A1May 5, 2020
EXOSC31Aug 9, 2022
FAM47A3May 5, 2020
FARS21May 5, 2020
FBXL31May 5, 2020
FBXL41Aug 9, 2022
FBXO118May 5, 2020
FGD16Aug 9, 2022
FGFR33Aug 9, 2022
FKTN1Jun 24, 2021
FLNA7Aug 9, 2022
FMN24May 5, 2020
FMR11May 5, 2020
FOLR11May 5, 2020
FOXG12May 5, 2020
FOXP15Aug 9, 2022
FOXP22May 5, 2020
FRAS13Jun 12, 2019
FRMPD42Aug 9, 2022
FTCD8May 5, 2020
FTCD-AS12May 5, 2020
FTSJ12May 5, 2020
FUCA13May 5, 2020
GABRB33Aug 9, 2022
GABRD1May 5, 2020
GABRG22Aug 9, 2022
GALC4May 5, 2020
GAMT2May 5, 2020
GATA43May 5, 2020
GATAD2B2Jun 1, 2020
GATM2May 5, 2020
GCDH3May 5, 2020
GDI11May 5, 2020
GJC21May 5, 2020
GLB13May 5, 2020
GLUD11May 5, 2020
GNAO12May 5, 2020
GNB12Aug 9, 2022
GON71Aug 9, 2022
GPLD11May 5, 2020
GPT22May 5, 2020
GRIA24Aug 9, 2022
GRIK21May 5, 2020
GRIN16Aug 9, 2022
GRIN2A6Aug 9, 2022
GRIN2B4May 5, 2020
GRIN2D8May 5, 2020
GRIP13May 5, 2020
GUSB2May 5, 2020
HACE11Aug 9, 2022
HCCS1May 5, 2020
HCN12May 5, 2020
HDAC42May 5, 2020
HDAC81May 5, 2020
HECW24May 5, 2020
HEPACAM1May 5, 2020
HEXA2May 5, 2020
HGSNAT3May 5, 2020
HIVEP24Aug 9, 2022
HK11Aug 9, 2022
HNRNPH22Aug 9, 2022
HNRNPK1Aug 9, 2022
HNRNPU1Aug 9, 2022
HOXA13May 5, 2020
HPRT11Aug 9, 2022
HSD17B101Aug 9, 2022
HUWE13Aug 9, 2022
IFIH11Aug 9, 2022
IGF11May 5, 2020
IL1RAPL11Jun 24, 2021
IQSEC24Aug 25, 2022
ITPR110Aug 9, 2022
KANSL13Aug 9, 2022
KANSL21May 5, 2020
KAT6A12May 5, 2020
KAT6B8May 5, 2020
KCNA22Jun 24, 2021
KCNB13Aug 9, 2022
KCNC21Aug 9, 2022
KCNH12May 5, 2020
KCNJ102May 5, 2020
KCNMA13May 5, 2020
KCNMA1-AS11May 5, 2020
KCNQ29Aug 9, 2022
KCNQ33Aug 9, 2022
KCNQ53May 5, 2020
KCNQ5-DT2May 5, 2020
KCNT11Aug 9, 2022
KCTD72May 5, 2020
KDM1A1Aug 9, 2022
KDM3B2Aug 9, 2022
KDM4B1Aug 9, 2022
KDM5C2Feb 10, 2017
KDM6A4Aug 9, 2022
KDM6B12Aug 9, 2022
KIF113Aug 9, 2022
KIF1A8Aug 9, 2022
KIF21A1Aug 9, 2022
KIF79May 5, 2020
KLHL72Aug 9, 2022
KMT2A17Aug 9, 2022
KMT2B12Aug 9, 2022
KMT2C12Aug 9, 2022
KMT2D20Aug 9, 2022
KMT2E2Aug 9, 2022
KMT5B1Aug 9, 2022
L1CAM1Aug 9, 2022
LAMA214May 5, 2020
LAMC312May 5, 2020
LAS1L2May 5, 2020
LEF13Nov 18, 2021
LGI11May 5, 2020
LINC024561May 5, 2020
LIX1L-AS11Mar 10, 2020
LMBRD21Aug 9, 2022
LOC1001307441May 5, 2020
LOC1005062352May 5, 2020
LOC1027240582Aug 9, 2022
LOC1053718561Aug 9, 2022
LOC1079880321May 5, 2020
LOC1082811341May 5, 2020
LOC1082811771Aug 9, 2022
LOC1138457881May 5, 2020
LOC1153081616May 5, 2020
LOC1208931161May 5, 2020
LOC1215875742May 5, 2020
LOC1216278831Aug 9, 2022
LOC1238640652May 5, 2020
LOC1254677681Aug 9, 2022
LOC1268056611May 5, 2020
LOC1268058513Mar 10, 2020
LOC1268065901Aug 9, 2022
LOC1268066581Jul 4, 2017
LOC1268066592Aug 9, 2022
LOC1268071361May 5, 2020
LOC1268071371May 5, 2020
LOC1268076191Aug 9, 2022
LOC1268595651May 5, 2020
LOC1268598271May 5, 2020
LOC1268598371May 5, 2020
LOC1268611091May 5, 2020
LOC1268615201May 5, 2020
LOC1268620601May 5, 2020
LOC1268622161May 5, 2020
LOC1268624791May 5, 2020
LOC1268627571May 5, 2020
LOC1268628641Aug 9, 2022
LOC1268631581Jul 4, 2017
LOC1268632561Feb 16, 2017
LOC1299321551May 5, 2020
LOC1299350261Jul 4, 2017
LOC1299959781May 5, 2020
LOC1299967112May 5, 2020
LOC1299975251May 5, 2020
LOC1299996751Aug 9, 2022
LOC1300030781May 5, 2020
LOC1300057221May 5, 2020
LOC1300562171May 5, 2020
LOC1300577721May 5, 2020
LOC1300583831May 5, 2020
LOC1300609032May 5, 2020
LOC1300629451May 5, 2020
LOC1300637171May 5, 2020
LOC1300642581May 5, 2020
LOC1300686281Aug 9, 2022
LRP217May 5, 2020
MACF11Jun 24, 2021
MAF3Aug 9, 2022
MAGEL21Aug 9, 2022
MAN1B14May 5, 2020
MAN2B15May 5, 2020
MANBA6May 5, 2020
MAOA3May 5, 2020
MAST14May 5, 2020
MBD52May 5, 2020
MCM71May 5, 2020
MCPH15May 5, 2020
MCPH1-AS11May 5, 2020
MEA12Aug 9, 2022
MECP218Aug 9, 2022
MED16May 5, 2020
MED125Aug 9, 2022
MED135Aug 9, 2022
MED13L9Aug 9, 2022
MED143May 5, 2020
MED171May 5, 2020
MED191May 5, 2020
MED231May 5, 2020
MED252Aug 9, 2022
MEIS21May 5, 2020
MET4May 5, 2020
MFN21Jun 24, 2021
MFSD81May 5, 2020
MN11Aug 9, 2022
MOCS15May 5, 2020
MORC22Jun 24, 2021
MSH62May 5, 2020
MTHFR4May 5, 2020
MTOR1May 5, 2020
MTR4May 5, 2020
MVP-DT1Aug 9, 2022
MYCN2May 5, 2020
MYO5A5May 5, 2020
MYT13May 5, 2020
MYT1L8Aug 9, 2022
NAA101Feb 16, 2017
NAA153Aug 9, 2022
NADSYN11Aug 9, 2022
NAGLU8May 5, 2020
NALCN1May 5, 2020
NARS14Aug 9, 2022
NCAPD36May 5, 2020
NCKAP11Jun 24, 2021
NDE12May 5, 2020
NDST15May 5, 2020
NDUFS32Aug 9, 2022
NEDD4L1May 5, 2020
NF11Aug 9, 2022
NFIB1Aug 9, 2022
NFIX2Jun 24, 2021
NGLY12Aug 9, 2022
NHS4May 5, 2020
NICN11Aug 9, 2022
NIPBL5Aug 9, 2022
NKAP1Jun 24, 2021
NLGN31May 5, 2020
NONO3Aug 9, 2022
NR2F12Aug 9, 2022
NR2F1-AS11Aug 9, 2022
NR4A21Aug 9, 2022
NRXN17May 5, 2020
NRXN23May 5, 2020
NSD110Aug 9, 2022
NSD21Aug 9, 2022
NSUN25May 5, 2020
OCRL1Aug 9, 2022
OFD13May 5, 2020
OPHN12Aug 9, 2022
OSGEP1Aug 9, 2022
OTULIN1May 5, 2020
PACS15Aug 9, 2022
PACS25May 5, 2020
PAFAH1B11Aug 9, 2022
PAH3May 5, 2020
PCDH193Aug 9, 2022
PDHA11Aug 9, 2022
PELP11Jun 24, 2021
PEX71May 5, 2020
PHF32Aug 9, 2022
PHF61Jun 24, 2021
PHF81May 5, 2020
PHIP2Aug 9, 2022
PIGA2May 5, 2020
PIGO1May 5, 2020
PIGT2Aug 9, 2022
PIK3CA1Aug 9, 2022
PLOD31Aug 9, 2022
POGZ2May 5, 2020
POLG8Oct 8, 2024
POLGARF8Oct 8, 2024
POLK1May 5, 2020
POLR3B1Feb 16, 2017
POMT11May 5, 2020
POMT22May 5, 2020
POU3F31Jun 24, 2021
PPM1D1Aug 9, 2022
PPP1CB2Aug 9, 2022
PPP2R5D2Aug 9, 2022
PPT12May 5, 2020
PQBP11Aug 9, 2022
PRICKLE13May 5, 2020
PRKD11Aug 9, 2022
PRRT21Aug 9, 2022
PTCHD12Apr 13, 2021
PTEN3Aug 9, 2022
PTPN116Aug 9, 2022
PUF606Aug 9, 2022
PUM11Aug 9, 2022
PURA2Aug 9, 2022
RAC11Aug 9, 2022
RALA1Aug 9, 2022
RBM102Aug 9, 2022
RBM8A3Mar 10, 2020
RELN5Aug 9, 2022
RLIG12May 5, 2020
RORB1Aug 9, 2022
RPL264Oct 30, 2023
RPL36A-HNRNPH22Aug 9, 2022
RPS6KA32May 5, 2020
RSPH4A1Aug 9, 2022
S100PBP1Aug 9, 2022
SATB11Aug 9, 2022
SATB21Jun 24, 2021
SCAMP42May 5, 2020
SCN1A8Aug 9, 2022
SCN1A-AS11Aug 9, 2022
SCN2A4Aug 9, 2022
SCN8A3Jun 24, 2021
SCNN1A1Aug 9, 2022
SETBP14May 5, 2020
SETD1B1Aug 9, 2022
SETD56Aug 9, 2022
SHANK11May 5, 2020
SHANK21Feb 16, 2017
SHANK36Aug 9, 2022
SHOC21May 5, 2020
SHROOM43May 5, 2020
SIN3A1Aug 9, 2022
SKI4May 5, 2020
SLC16A21May 5, 2020
SLC19A31May 5, 2020
SLC25A121Aug 9, 2022
SLC25A151May 5, 2020
SLC26A5-AS11Aug 9, 2022
SLC2A13Aug 9, 2022
SLC46A11May 5, 2020
SLC6A15Aug 9, 2022
SLC6A1-AS12Aug 9, 2022
SLC6A81Aug 9, 2022
SLC9A65May 5, 2020
SMARCA24Aug 9, 2022
SMARCA42May 5, 2020
SMARCC21Aug 9, 2022
SMC1A3Aug 9, 2022
SNHG141May 5, 2020
SNRNP701Jun 24, 2021
SON1Aug 9, 2022
SOX21Aug 9, 2022
SOX2-OT1Aug 9, 2022
SOX31May 5, 2020
SOX52Aug 9, 2022
SPART3Aug 9, 2022
SPATA221May 5, 2020
SPEN2Aug 9, 2022
SPG113May 5, 2020
SPRED11Aug 9, 2022
SPTAN11May 5, 2020
SPTBN11Aug 9, 2022
SRCAP2Aug 9, 2022
ST3GAL31May 5, 2020
STAG11Aug 9, 2022
STXBP11Aug 9, 2022
SYN11May 5, 2020
SYNE111May 5, 2020
SYNGAP110Aug 9, 2022
SYNGAP1-AS110Aug 9, 2022
SYP1Aug 9, 2022
SZT21May 5, 2020
TAB21May 5, 2020
TANC21Aug 9, 2022
TBC1D241May 5, 2020
TBR12May 5, 2020
TBX569Sep 15, 2023
TCF203Aug 9, 2022
TCF41May 5, 2020
TCF7L21Aug 9, 2022
THOC22Aug 9, 2022
TLK22Aug 9, 2022
TMEM671May 5, 2020
TNRC6B3Aug 9, 2022
TP531Aug 9, 2022
TPP13May 5, 2020
TRAF72Aug 9, 2022
TRAPPC910May 5, 2020
TRIO5Aug 9, 2022
TRIP121Aug 9, 2022
TRRAP2Jun 24, 2021
TSPAN72May 5, 2020
TTC51Aug 9, 2022
TTN1Aug 9, 2022
TTN-AS11Aug 9, 2022
TUBB2A1Aug 9, 2022
TUBB31May 5, 2020
TWIST11Aug 9, 2022
UBAP2L1Jun 24, 2021
UBE2A1Aug 9, 2022
UBE3A1May 5, 2020
UBTF1Aug 9, 2022
UNC803Aug 9, 2022
USP9X2Aug 9, 2022
VCP2May 5, 2020
VLDLR1May 5, 2020
VPS13B6May 5, 2020
WAC1Aug 9, 2022
WDFY33Jun 24, 2021
WDFY3-AS11May 5, 2020
WDR191May 5, 2020
WDR452May 5, 2020
WDR622May 5, 2020
WNT10B4Sep 27, 2018
WWOX5Aug 9, 2022
YARS14Aug 9, 2022
ZBTB183Aug 9, 2022
ZBTB201May 5, 2020
ZBTB7A1Aug 9, 2022
ZEB24Aug 9, 2022
ZMYM21Aug 9, 2022
ZNF2922Aug 9, 2022

Condition

NameSubmissionsLast Updated
8q24.3 microdeletion syndrome6Aug 9, 2022
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3Jun 24, 2021
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Aug 9, 2022
AXIN2-related attenuated familial adenomatous polyposis10Mar 14, 2021
Abnormal radial ray morphology1Nov 18, 2021
Angelman syndrome1May 5, 2020
Anophthalmia/microphthalmia-esophageal atresia syndrome1Aug 9, 2022
Au-Kline syndrome1Aug 9, 2022
Autism1May 5, 2020
Autism spectrum disorder1May 5, 2020
Autism, susceptibility to, 171Feb 16, 2017
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome6May 5, 2020
Autosomal dominant non-syndromic intellectual disability1Oct 8, 2024
Autosomal recessive spinocerebellar ataxia 72May 5, 2020
Baraitser-Winter syndrome 11Aug 9, 2022
Blepharophimosis - intellectual disability syndrome, MKB type2May 5, 2020
Bohring-Opitz syndrome1May 5, 2020
Bone marrow failure syndrome 51Aug 9, 2022
CBL-related disorder1Aug 9, 2022
CEBALID syndrome1Aug 9, 2022
CHARGE syndrome1Aug 9, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome5Aug 9, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1May 5, 2020
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Aug 9, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Aug 9, 2022
Cholestanol storage disease1Aug 5, 2024
Christianson syndrome2Feb 10, 2017
Coffin-Lowry syndrome1May 5, 2020
Coffin-Siris syndrome2May 5, 2020
Coffin-Siris syndrome 11Jun 24, 2021
Coffin-Siris syndrome 122Aug 9, 2022
Cohen syndrome4May 5, 2020
Complex cortical dysplasia with other brain malformations 11May 5, 2020
Congenital contractures of the limbs and face, hypotonia, and developmental delay1May 5, 2020
Congenital fibrosis of extraocular muscles type 11Aug 9, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 5, 2020
Congenital heart defects, multiple types, 21May 5, 2020
Congenital muscular hypertrophy-cerebral syndrome1Feb 10, 2017
Cornelia de Lange syndrome 11Jun 24, 2021
Cornelia de Lange syndrome 51May 5, 2020
Creatine transporter deficiency1Aug 9, 2022
DYRK1A-related intellectual disability syndrome4Aug 9, 2022
Deficiency of alpha-mannosidase2May 5, 2020
Developmental and epileptic encephalopathy 942Aug 9, 2022
Developmental and epileptic encephalopathy, 110Aug 9, 2022
Developmental and epileptic encephalopathy, 111May 5, 2020
Developmental and epileptic encephalopathy, 133Jun 24, 2021
Developmental and epileptic encephalopathy, 171May 5, 2020
Developmental and epileptic encephalopathy, 21Aug 9, 2022
Developmental and epileptic encephalopathy, 281Aug 9, 2022
Developmental and epileptic encephalopathy, 331May 5, 2020
Developmental and epileptic encephalopathy, 421Aug 9, 2022
Developmental and epileptic encephalopathy, 72Jun 24, 2021
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Aug 9, 2022
Developmental and epileptic encephalopathy, 92Aug 9, 2022
Developmental delay with or without dysmorphic facies and autism1May 5, 2020
Developmental delay with short stature, dysmorphic facial features, and sparse hair1Aug 9, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities1May 5, 2020
Developmental delay with variable neurologic and brain abnormalities1Aug 9, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy2Jun 24, 2021
Diamond-Blackfan anemia 114Oct 30, 2023
Dias-Logan syndrome1May 5, 2020
Dystonia 28, childhood-onset1Aug 9, 2022
Ectrodactyly2Nov 18, 2021
Encephalopathy due to GLUT1 deficiency2Jun 24, 2021
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1May 5, 2020
Epilepsy, childhood absence, susceptibility to, 51May 5, 2020
Epilepsy, idiopathic generalized, susceptibility to, 121Aug 9, 2022
Episodic ataxia type 21Aug 9, 2022
FGFR3-related chondrodysplasia1Aug 9, 2022
Febrile seizures, familial, 41Aug 9, 2022
Febrile seizures, familial, 81Aug 9, 2022
Feingold syndrome type 11May 5, 2020
Fraser syndrome 13Jun 12, 2019
Galloway-Mowat syndrome2Aug 9, 2022
Generalized epilepsy with febrile seizures plus, type 23Aug 9, 2022
Global developmental delay32Jun 24, 2021
Hereditary lymphedema type I2Aug 9, 2022
Heterotopia, periventricular, X-linked dominant2Jun 24, 2021
Hogue-Janssens syndrome 11May 5, 2020
Holt-Oram syndrome69Sep 15, 2023
Hypomagnesemia, seizures, and intellectual disability 21Aug 9, 2022
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1Feb 16, 2017
Hypotonia, ataxia, and delayed development syndrome1May 5, 2020
Intellectual developmental disorder 613Aug 9, 2022
Intellectual developmental disorder 621Aug 9, 2022
Intellectual developmental disorder with autism and macrocephaly2Feb 15, 2017
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2May 5, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis4Aug 9, 2022
Intellectual disability906Apr 13, 2021
Intellectual disability, X-linked 12May 5, 2020
Intellectual disability, X-linked 1024May 5, 2020
Intellectual disability, X-linked 211Jun 24, 2021
Intellectual disability, X-linked 411May 5, 2020
Intellectual disability, X-linked 631May 5, 2020
Intellectual disability, X-linked 91May 5, 2020
Intellectual disability, X-linked, syndromic, Bain type1Jun 24, 2021
Intellectual disability, autosomal dominant4Feb 16, 2017
Intellectual disability, autosomal dominant 132Aug 9, 2022
Intellectual disability, autosomal dominant 222May 5, 2020
Intellectual disability, autosomal dominant 291May 5, 2020
Intellectual disability, autosomal dominant 392Aug 9, 2022
Intellectual disability, autosomal dominant 461May 5, 2020
Intellectual disability, autosomal dominant 56May 5, 2020
Intellectual disability, autosomal dominant 502Aug 9, 2022
Intellectual disability, autosomal dominant 532Aug 9, 2022
Intellectual disability, autosomal dominant 572Aug 9, 2022
Intellectual disability, autosomal dominant 62May 5, 2020
Intellectual disability, autosomal dominant 82Aug 9, 2022
Intellectual disability, autosomal dominant 91May 5, 2020
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency5May 5, 2020
Intellectual disability-hypotonic facies syndrome, X-linked, 12May 5, 2020
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2May 5, 2020
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome2May 5, 2020
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Aug 9, 2022
Involuntary movements1Aug 25, 2022
Joubert syndrome 32May 5, 2020
KBG syndrome7May 5, 2020
KCNQ3-related developmental disability1Aug 9, 2022
Kabuki syndrome 17Aug 9, 2022
Kabuki syndrome 22Aug 9, 2022
Kleefstra syndrome 21May 5, 2020
Landau-Kleffner syndrome3Aug 9, 2022
Lesch-Nyhan syndrome1Aug 9, 2022
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome1Jun 24, 2021
Macrocephaly-autism syndrome1Aug 9, 2022
Malan overgrowth syndrome1Jun 24, 2021
Microcephaly 18, primary, autosomal dominant3Jun 24, 2021
Microcephaly and chorioretinopathy 11Jun 24, 2021
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Aug 9, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome4Aug 9, 2022
Mowat-Wilson syndrome3May 5, 2020
Myoclonic-astatic epilepsy1May 5, 2020
Neonatal-onset encephalopathy with rigidity and seizures1May 5, 2020
Neurodegeneration with brain iron accumulation 52May 5, 2020
Neurodevelopmental delay228Aug 9, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Jun 24, 2021
Neurodevelopmental disorder with hypotonia, seizures, and absent language1May 5, 2020
Neurodevelopmental disorder with language impairment and behavioral abnormalities2Jun 24, 2021
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities4Aug 9, 2022
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset2Aug 9, 2022
Noonan syndrome1Aug 9, 2022
Noonan syndrome 15Aug 9, 2022
Noonan syndrome-like disorder with loose anagen hair 21May 5, 2020
Okur-Chung neurodevelopmental syndrome3Aug 9, 2022
Oligodontia-cancer predisposition syndrome4Mar 14, 2021
Ovarian dysgenesis 31Feb 15, 2017
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1May 5, 2020
PIK3CA related overgrowth syndrome1Aug 9, 2022
PURA Syndrome1Aug 9, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1May 5, 2020
Phelan-McDermid syndrome4May 5, 2020
Pitt-Hopkins syndrome1May 5, 2020
Pontocerebellar hypoplasia type 1B1Aug 9, 2022
Primrose syndrome1May 5, 2020
Progressive myositis ossificans1Aug 9, 2022
Pyridoxine-dependent epilepsy1Aug 9, 2022
Pyruvate dehydrogenase E2 deficiency1Aug 9, 2022
Radial aplasia-thrombocytopenia syndrome3Mar 10, 2020
Recurrent fractures1Sep 27, 2018
Renpenning syndrome1Aug 9, 2022
Rett syndrome4May 5, 2020
Rett syndrome, congenital variant1May 5, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations2May 5, 2020
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2Feb 10, 2017
SIN3A-related intellectual disability syndrome due to a point mutation1Aug 9, 2022
SYNGAP1-related developmental and epileptic encephalopathy3Aug 9, 2022
Schuurs-Hoeijmakers syndrome1Aug 9, 2022
Seizures, benign familial neonatal, 12Aug 9, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2Jun 24, 2021
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2Jun 1, 2020
Severe myoclonic epilepsy in infancy1May 5, 2020
Severe neonatal-onset encephalopathy with microcephaly1Aug 9, 2022
Shprintzen-Goldberg syndrome2May 5, 2020
Sifrim-Hitz-Weiss syndrome1May 5, 2020
Snijders Blok-Campeau syndrome2Aug 9, 2022
Snijders blok-fisher syndrome1Jun 24, 2021
Sotos syndrome5Aug 9, 2022
Spastic paraplegia-severe developmental delay-epilepsy syndrome1Aug 9, 2022
Specific learning disability1Aug 25, 2022
Spinocerebellar ataxia type 15/161Aug 9, 2022
Spinocerebellar ataxia type 291May 5, 2020
Split hand-foot malformation 64Sep 27, 2018
Syndromic X-linked intellectual disability 342Aug 9, 2022
Syndromic X-linked intellectual disability Claes-Jensen type2Feb 10, 2017
Syndromic X-linked intellectual disability Lubs type1Aug 9, 2022
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome2Aug 9, 2022
Wiedemann-Steiner syndrome13Aug 9, 2022
X-linked hydrocephalus syndrome1Aug 9, 2022
X-linked intellectual disability Cabezas type1Feb 10, 2017
X-linked intellectual disability-cerebellar hypoplasia syndrome1Aug 9, 2022
X-linked intellectual disability-psychosis-macroorchidism syndrome1Feb 15, 2017
X-linked intellectual disability-short stature-overweight syndrome2Aug 9, 2022
ZTTK syndrome1Aug 9, 2022