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Department of Genetics (Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine), LABOGENMOL

General information

Department of Genetics, LABOGENMOL
Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
22 Boulevard Gambetta
Rouen
France - 76000
http://medecine-pharmacie.univ-rouen.fr/genomic-and-personalized-medicine-in-cancer-and-neurological-disorders-279535.kjsp
Organization ID: 506968

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 813

Gene

GeneSubmissionsLast Updated
ABL12Feb 13, 2024
ACSL41Feb 15, 2023
ACTC11Feb 18, 2022
ADNP1Feb 13, 2024
AEBP11Feb 15, 2023
AFF43Feb 15, 2023
AGO12Nov 6, 2020
AHDC16Feb 15, 2023
ANK23Feb 15, 2023
ANKRD117Feb 13, 2024
AP4E11Feb 13, 2024
AP4M11Feb 18, 2022
ARFGEF11Feb 13, 2024
ARHGEF91Feb 15, 2023
ARID1A2Feb 13, 2024
ARID1B6Feb 13, 2024
ARID23Feb 15, 2023
ARV11Feb 18, 2022
ASH1L5Feb 15, 2023
ASNS2Nov 6, 2020
ASXL12Feb 15, 2023
ASXL22Feb 15, 2023
ASXL36Feb 15, 2023
ATP1A21Feb 15, 2023
ATP6V1A1Feb 15, 2023
ATRX2Feb 15, 2023
AUTS29Feb 15, 2023
BCL11A2Feb 15, 2023
BCL11B1Feb 15, 2023
BICD21Feb 15, 2023
BICRA1Feb 15, 2023
BICRAL1Feb 15, 2023
BMPR21Feb 18, 2022
BPTF1Nov 6, 2020
BRD43Feb 13, 2024
BRPF13Feb 15, 2023
BRWD33Feb 13, 2024
CACNA1A5Feb 15, 2023
CACNA1C3Feb 15, 2023
CACNA1D1Feb 15, 2023
CACNA1G3Feb 18, 2022
CALU1Feb 15, 2023
CAMK2A2Feb 13, 2024
CAMK2B3Feb 15, 2023
CAMTA15Feb 15, 2023
CAPRIN11Feb 15, 2023
CASK4Feb 13, 2024
CASZ11Feb 15, 2023
CDC42BPB2Feb 15, 2023
CDH232Nov 6, 2020
CDK131Nov 6, 2020
CDX21Feb 12, 2020
CELF41Feb 13, 2024
CELSR31Feb 15, 2023
CEP1042Feb 15, 2023
CFAP961Feb 18, 2022
CHD11Nov 6, 2020
CHD26Feb 13, 2024
CHD36Feb 15, 2023
CHD42Nov 6, 2020
CHD73Feb 15, 2023
CHD89Feb 13, 2024
CIC5Feb 15, 2023
CLDN51Nov 6, 2020
CLTC4Feb 18, 2022
CNNM21Nov 6, 2020
CNOT12Feb 18, 2022
CNOT31Feb 15, 2023
COL11A11Nov 6, 2020
COQ42Feb 15, 2023
CORO1A1Feb 15, 2023
CREBBP1Nov 6, 2020
CSNK2A13Feb 15, 2023
CSNK2B1Feb 15, 2023
CTNNB15Feb 15, 2023
CTSF1Feb 18, 2022
CUL33Feb 15, 2023
CUX21Feb 15, 2023
CZ1P-ASNS2Nov 6, 2020
DCC2Feb 15, 2023
DDX3X3Feb 15, 2023
DEAF13Feb 15, 2023
DEPDC52Feb 15, 2023
DGCR81Feb 15, 2023
DIP2A3Feb 15, 2023
DIP2B1Feb 15, 2023
DLG31Feb 15, 2023
DLG41Feb 15, 2023
DLGAP11Feb 15, 2023
DLGAP1-AS31Feb 15, 2023
DLL12Feb 13, 2024
DNM11Feb 18, 2022
DNMT3A2Feb 15, 2023
DOT1L1Feb 15, 2023
DPF22Feb 15, 2023
DPP61Nov 6, 2020
DPYSL51Feb 15, 2023
DUSP291Feb 13, 2024
DYNC1H19Feb 15, 2023
DYRK1A4Feb 15, 2023
EBF33Feb 15, 2023
EBP1Feb 13, 2024
EED1Feb 15, 2023
EEF1A21Feb 15, 2023
EHMT12Feb 18, 2022
EIF4A11Feb 15, 2023
EIF5A1Feb 15, 2023
ELP41Feb 15, 2023
EP3002Feb 15, 2023
EPCAM1Feb 13, 2024
ERF1Feb 15, 2023
EXOSC31Oct 23, 2019
FBN11Feb 18, 2022
FBN22Nov 6, 2020
FBXL42Feb 18, 2022
FBXO113Feb 15, 2023
FGFR31Feb 15, 2023
FIGN1Feb 18, 2022
FLNA1Feb 18, 2022
FMN22Nov 6, 2020
FMR11Nov 6, 2020
FOXG13Feb 15, 2023
FOXP18Feb 15, 2023
FSD1L1Nov 14, 2023
FTSJ11Feb 15, 2023
GABBR21Feb 15, 2023
GABRA11Nov 6, 2020
GABRA51Feb 15, 2023
GABRB31Nov 6, 2020
GABRD1Feb 15, 2023
GAPVD11Feb 15, 2023
GATA61Feb 18, 2022
GATAD2B3Feb 15, 2023
GGNBP21Feb 18, 2022
GIGYF11Feb 15, 2023
GIT11Feb 18, 2022
GJD2-DT1Feb 18, 2022
GLI21Feb 18, 2022
GNAI12Feb 13, 2024
GNAS1Feb 13, 2024
GNB11Nov 6, 2020
GNB21Feb 15, 2023
GRIA12Feb 15, 2023
GRIA21Feb 13, 2024
GRIA31Nov 6, 2020
GRIA41Feb 15, 2023
GRIK21Feb 15, 2023
GRIN13Feb 15, 2023
GRIN2A2Jun 12, 2019
GRIN2B6Feb 15, 2023
GRIN2D1Feb 13, 2024
GUCY2D1Feb 15, 2023
H1-41Feb 18, 2022
HCFC11Nov 6, 2020
HCN11Nov 6, 2020
HDAC41Nov 6, 2020
HDAC83Jun 12, 2019
HECTD41Feb 15, 2023
HECW22Feb 18, 2022
HIVEP21Feb 15, 2023
HK11Feb 15, 2023
HNRNPU2Feb 15, 2023
HSD17B101Feb 18, 2022
HUWE13Feb 15, 2023
IL1RAPL11Feb 18, 2022
INTS61Feb 15, 2023
IPO9-AS11Feb 15, 2023
IQSEC12Feb 18, 2022
IQSEC21Nov 6, 2020
IRAK1BP11Feb 18, 2022
IRF2BPL3Feb 13, 2024
IRF61Feb 13, 2024
KANSL12Feb 18, 2022
KAT6A4Feb 15, 2023
KAT6B2Feb 13, 2024
KCNA21Feb 15, 2023
KCNB11Nov 6, 2020
KCNH12Feb 15, 2023
KCNK32Feb 15, 2023
KCNK92Feb 18, 2022
KCNMA12Feb 15, 2023
KCNQ23Feb 15, 2023
KCNQ32Feb 15, 2023
KCNQ51Nov 6, 2020
KCNT11Nov 6, 2020
KDM3B4Feb 13, 2024
KDM4B1Feb 13, 2024
KDM5B3Feb 15, 2023
KDM5C3Feb 15, 2023
KDM6A1Feb 15, 2023
KDM6B3Feb 13, 2024
KIF111Feb 15, 2023
KIF1A2Feb 15, 2023
KIF21A1Feb 13, 2024
KIF5C1Feb 15, 2023
KIRREL31Feb 18, 2022
KLF9-DT1Feb 15, 2023
KLHL71Feb 13, 2024
KMT2A7Feb 13, 2024
KMT2B1Feb 15, 2023
KMT2C9Feb 15, 2023
KMT2D7Feb 13, 2024
KMT2E2Feb 15, 2023
KRAS1Nov 6, 2020
L1CAM1Feb 18, 2022
LAMA51Feb 15, 2023
LAS1L1Feb 15, 2023
LOC1005073461Feb 15, 2023
LOC1053705891Feb 15, 2023
LOC1053718562Feb 15, 2023
LOC1059800031Feb 15, 2023
LOC1079880321Feb 18, 2022
LOC1082811771Feb 18, 2022
LOC1215875742Feb 13, 2024
LOC1216278831Feb 15, 2023
LOC1216279691Feb 15, 2023
LOC1268066581Feb 18, 2022
LOC1268066592Feb 15, 2023
LOC1268067981Feb 15, 2023
LOC1268599131Feb 13, 2024
LOC1268620601Nov 6, 2020
LOC1268626091Feb 18, 2022
LOC1268626111Feb 13, 2024
LOC1268631581Feb 15, 2023
LOC1268632561Feb 15, 2023
LOC1293903501Feb 15, 2023
LOC1299923301Nov 6, 2020
LOC1299954491Nov 6, 2020
LOC1300581731Feb 18, 2022
LRP11Feb 18, 2022
LZTR11Feb 15, 2023
MAGEL23Feb 15, 2023
MANBA1Nov 6, 2020
MAPK8IP31Feb 18, 2022
MAPRE21Feb 15, 2023
MARK21Feb 18, 2022
MAU21Feb 15, 2023
MBD51Feb 15, 2023
MECP212Feb 15, 2023
MED121Feb 13, 2024
MED12L3Feb 13, 2024
MED133Feb 15, 2023
MED13L1Jun 12, 2019
MEF2C1Feb 15, 2023
MEIS21Feb 18, 2022
MIB11Feb 15, 2023
MN12Nov 6, 2020
MORC21Feb 15, 2023
MSH61Feb 15, 2023
MSL31Nov 6, 2020
MTF11Feb 15, 2023
MTOR1Feb 15, 2023
MYH102Feb 15, 2023
MYRF1Feb 18, 2022
MYT1L6Feb 15, 2023
NAA103Feb 18, 2022
NAA154Feb 15, 2023
NALCN2Feb 15, 2023
NARS11Feb 15, 2023
NAV11Feb 15, 2023
NBEA6Feb 13, 2024
NEDD4L2Feb 15, 2023
NEFL1Feb 18, 2022
NFE2L21Nov 6, 2020
NFIB3Feb 15, 2023
NGLY11Nov 6, 2020
NINL2Feb 15, 2023
NIPBL4Apr 6, 2022
NLGN31Feb 15, 2023
NLGN4X1Feb 15, 2023
NPTN1Feb 18, 2022
NR2F11Feb 15, 2023
NR4A22Feb 15, 2023
NRG21Feb 15, 2023
NRXN14Feb 15, 2023
NRXN32Feb 15, 2023
NSD11Feb 18, 2022
NTRK25Feb 15, 2023
NUP2141Feb 15, 2023
NUS11Feb 15, 2023
OPHN12Feb 13, 2024
P2RY122Feb 15, 2023
PAX61Feb 13, 2024
PBX12Feb 15, 2023
PCDH122Feb 18, 2022
PCDH191Feb 15, 2023
PDGFB2Feb 14, 2024
PDHA11Nov 6, 2020
PDS5A1Nov 6, 2020
PER22Feb 15, 2023
PGAP22Feb 15, 2023
PHACTR11Nov 6, 2020
PHF121Feb 18, 2022
PHF22Feb 15, 2023
PHF21A1Feb 15, 2023
PHF31Feb 15, 2023
PHF61Feb 13, 2024
PHF81Nov 6, 2020
PHIP3Feb 15, 2023
PIEZO22Feb 13, 2024
PIGO2Nov 6, 2020
PKP41Feb 15, 2023
PLEKHG21Nov 6, 2020
POGZ2Feb 15, 2023
POLG2Feb 13, 2024
POLGARF2Feb 13, 2024
POLR2A1Feb 18, 2022
POMT11Nov 6, 2020
PORCN1Nov 6, 2020
POU3F35Feb 15, 2023
PPP2R1A1Feb 15, 2023
PPP3CA3Feb 13, 2024
PQBP11Feb 15, 2023
PRMT72Nov 6, 2020
PRPF84Feb 15, 2023
PTCH11Feb 15, 2023
PTCH21Feb 18, 2022
PTCHD11Feb 18, 2022
PTEN1Feb 15, 2023
PTPN111Feb 18, 2022
PTPN62Feb 15, 2023
PUF602Feb 15, 2023
PUM11Nov 6, 2020
PUM21Feb 15, 2023
PURA1Nov 6, 2020
QRICH11Feb 15, 2023
RAB39B1Feb 18, 2022
RAC11Feb 18, 2022
RAI13Feb 15, 2023
RALGAPB1Feb 15, 2023
RERE2Feb 15, 2023
REST1Feb 15, 2023
RFX32Feb 15, 2023
RIMS11Feb 15, 2023
RNASEH2B2Feb 15, 2023
RNF142Feb 18, 2022
RPS6KA31Feb 18, 2022
RYR12Feb 13, 2024
SATB11Feb 15, 2023
SATB24Feb 15, 2023
SCAF41Feb 18, 2022
SCAF81Feb 15, 2023
SCN2A7Feb 15, 2023
SCN3A1Nov 6, 2020
SCN8A5Feb 18, 2022
SENP3-EIF4A11Feb 15, 2023
SENP81Nov 6, 2020
SEPSECS1Nov 6, 2020
SETBP12Feb 15, 2023
SETD1A5Feb 15, 2023
SETD26Feb 13, 2024
SETD56Feb 13, 2024
SHANK21Feb 15, 2023
SHANK33Feb 15, 2023
SKI2Feb 15, 2023
SLC12A22Feb 13, 2024
SLC2A11Feb 18, 2022
SLC6A11Feb 18, 2022
SLC6A83Feb 13, 2024
SMAD41Feb 15, 2023
SMARCA23Feb 15, 2023
SMARCB15Feb 13, 2024
SMARCC11Feb 15, 2023
SMC31Nov 6, 2020
SMG71Nov 6, 2020
SMG82Feb 13, 2024
SMG91Nov 6, 2020
SMN11Apr 27, 2022
SMS1Feb 18, 2022
SNHG143Feb 15, 2023
SON3Feb 18, 2022
SOS21Feb 18, 2022
SOX21Feb 18, 2022
SOX2-OT1Feb 18, 2022
SOX53Feb 15, 2023
SOX61Feb 18, 2022
SPEN8Feb 15, 2023
SPOP1Feb 15, 2023
SPTAN13Feb 15, 2023
SPTBN13Feb 13, 2024
SQSTM11Nov 6, 2020
SRCAP3Feb 15, 2023
SRRM21Nov 6, 2020
SRSF11Feb 15, 2023
SRSF111Feb 15, 2023
SSBP31Feb 15, 2023
STX1A1Nov 6, 2020
STXBP13Feb 15, 2023
STXBP51Feb 15, 2023
SUZ121Feb 18, 2022
SYN11Feb 15, 2023
SYNE11Nov 6, 2020
SYNGAP13Feb 13, 2024
SYNGAP1-AS12Feb 13, 2024
SZT21Feb 18, 2022
TAF12Feb 15, 2023
TANC24Feb 15, 2023
TANGO21Nov 6, 2020
TAOK11Feb 18, 2022
TBX63Nov 6, 2020
TCF121Feb 18, 2022
TCF205Feb 15, 2023
TCF43Feb 15, 2023
TCF7L21Nov 6, 2020
TCTN12Feb 15, 2023
TET31Feb 15, 2023
TFAP2A1Nov 6, 2020
TGFB21Feb 13, 2024
TGFB31Feb 15, 2023
THOC22Nov 6, 2020
TLK22Feb 13, 2024
TM9SF41Feb 15, 2023
TNNI21Feb 13, 2024
TNRC6B3Feb 13, 2024
TP53I131Feb 18, 2022
TRAPPC92Feb 15, 2023
TRIO5Feb 15, 2023
TRIP111Feb 15, 2023
TRIP124Feb 13, 2024
TRPM31Feb 15, 2023
TRRAP4Feb 18, 2022
TSC21Feb 15, 2023
TTBK11Nov 6, 2020
TUBB2A1Feb 18, 2022
TUBB31Feb 15, 2023
UBE3A3Feb 15, 2023
UBE4B1Feb 15, 2023
UBR41Feb 15, 2023
UFSP21Feb 18, 2022
UNC5B1Feb 15, 2023
UNC801Feb 13, 2024
UPF11Feb 18, 2022
USP9X4Feb 15, 2023
VPS531Nov 6, 2020
WAC1Feb 18, 2022
WDFY31Feb 15, 2023
WDR262Feb 15, 2023
WDR452Feb 15, 2023
WWOX1Feb 18, 2022
ZBTB181Nov 6, 2020
ZBTB201Feb 15, 2023
ZDHHC92Feb 15, 2023
ZFHX33Feb 15, 2023
ZFHX3-AS11Feb 15, 2023
ZMIZ13Feb 15, 2023
ZMYM22Feb 15, 2023
ZNF1481Feb 15, 2023
ZNF2921Feb 15, 2023
ZNF4621Feb 15, 2023
ZNF8272Feb 15, 2023
ZSWIM61Nov 6, 2020

Condition

NameSubmissionsLast Updated
8q24.3 microdeletion syndrome1Feb 15, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Feb 15, 2023
Abnormal cerebellum morphology1Oct 23, 2019
Abnormal facial shape1Jun 12, 2019
Alzahrani-Kuwahara syndrome2Feb 13, 2024
Angelman syndrome2Feb 15, 2023
Arthrogryposis, distal, with impaired proprioception and touch2Feb 13, 2024
Autism1Jun 12, 2019
Autism spectrum disorder271Feb 13, 2024
Autism spectrum disorder due to AUTS2 deficiency1Feb 15, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2Feb 15, 2023
Autosomal dominant popliteal pterygium syndrome1Feb 13, 2024
Basal ganglia calcification, idiopathic, 52Feb 14, 2024
Beta-D-mannosidosis1Nov 6, 2020
Birk-Barel syndrome1Feb 18, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type1Feb 15, 2023
CEBALID syndrome1Nov 6, 2020
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Feb 18, 2022
Cerebellar ataxia2Jun 12, 2019
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Nov 6, 2020
Cholestasis-pigmentary retinopathy-cleft palate syndrome1Feb 13, 2024
Chromosome 2q32-q33 deletion syndrome3Feb 18, 2022
Clark-Baraitser syndrome2Feb 15, 2023
Coffin-Siris syndrome 14Feb 15, 2023
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2Feb 15, 2023
Cognitive impairment with or without cerebellar ataxia1Feb 18, 2022
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Nov 6, 2020
Congenital diarrhea 5 with tufting enteropathy1Feb 13, 2024
Congenital fibrosis of extraocular muscles type 11Feb 13, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Nov 6, 2020
Cornelia de Lange syndrome 13Apr 6, 2022
Cornelia de Lange syndrome 62Feb 13, 2024
Cowden syndrome 11Feb 15, 2023
Craniosynostosis 41Feb 15, 2023
Creatine transporter deficiency2Feb 13, 2024
DYRK1A-related intellectual disability syndrome3Feb 15, 2023
DeSanto-Shinawi syndrome due to WAC point mutation1Feb 18, 2022
Developmental and epileptic encephalopathy 941Feb 13, 2024
Developmental and epileptic encephalopathy 981Feb 15, 2023
Developmental and epileptic encephalopathy, 111Feb 18, 2022
Developmental and epileptic encephalopathy, 181Feb 18, 2022
Developmental and epileptic encephalopathy, 281Feb 18, 2022
Developmental and epileptic encephalopathy, 381Feb 18, 2022
Developmental and epileptic encephalopathy, 422Nov 6, 2020
Developmental and epileptic encephalopathy, 431Nov 6, 2020
Developmental and epileptic encephalopathy, 541Feb 15, 2023
Developmental delay with or without dysmorphic facies and autism1Nov 6, 2020
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Feb 15, 2023
Developmental delay, impaired speech, and behavioral abnormalities1Feb 18, 2022
Developmental disorder197Feb 13, 2024
Diencephalic-mesencephalic junction dysplasia syndrome 12Feb 18, 2022
Distal arthrogryposis type 2B11Feb 13, 2024
Epilepsy, familial focal, with variable foci 11Feb 15, 2023
Faundes-Banka syndrome1Feb 15, 2023
Fetal akinesia deformation sequence 11Oct 23, 2019
Fibromatosis, gingival, 51Feb 15, 2023
Focal dermal hypoplasia1Nov 6, 2020
GNAS-related disorders1Feb 13, 2024
Gorlin syndrome1Feb 18, 2022
HSD10 mitochondrial disease1Feb 18, 2022
Hereditary spastic paraplegia 501Feb 18, 2022
Heterotopia, periventricular, X-linked dominant1Feb 18, 2022
Hydrocephalus, nonsyndromic, autosomal recessive 11Nov 14, 2023
Hyperphosphatasia with intellectual disability syndrome 22Nov 6, 2020
Hypertrophic cardiomyopathy 111Feb 18, 2022
Hypoplasia of the pons1Oct 23, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Feb 13, 2024
Intellectual developmental disorder 621Feb 15, 2023
Intellectual developmental disorder with autism and macrocephaly1Feb 13, 2024
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Feb 15, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis2Feb 15, 2023
Intellectual developmental disorder, autosomal dominant 641Feb 15, 2023
Intellectual developmental disorder, autosomal dominant 671Feb 15, 2023
Intellectual disability28Feb 15, 2023
Intellectual disability, X-linked 11Nov 6, 2020
Intellectual disability, X-linked 1021Feb 15, 2023
Intellectual disability, X-linked 191Feb 18, 2022
Intellectual disability, X-linked 901Feb 15, 2023
Intellectual disability, X-linked 932Feb 13, 2024
Intellectual disability, X-linked 99, syndromic, female-restricted3Feb 18, 2022
Intellectual disability, X-linked, syndromic 331Oct 29, 2021
Intellectual disability, autosomal dominant 141Feb 13, 2024
Intellectual disability, autosomal dominant 151Feb 18, 2022
Intellectual disability, autosomal dominant 393Feb 15, 2023
Intellectual disability, autosomal dominant 451Feb 15, 2023
Intellectual disability, autosomal dominant 461Nov 6, 2020
Intellectual disability, autosomal dominant 51Jun 12, 2019
Intellectual disability, autosomal dominant 502Feb 15, 2023
Intellectual disability, autosomal dominant 531Feb 13, 2024
Intellectual disability, autosomal dominant 55, with seizures1Feb 15, 2023
Intellectual disability, autosomal dominant 562Nov 6, 2020
Intellectual disability, autosomal dominant 571Feb 13, 2024
Intellectual disability, autosomal dominant 82Feb 15, 2023
Intellectual disability, autosomal dominant 91Nov 6, 2020
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Feb 13, 2024
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Feb 18, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Nov 6, 2020
KBG syndrome2Feb 13, 2024
Kabuki syndrome 13Feb 13, 2024
Kleefstra syndrome 12Feb 18, 2022
Kleefstra syndrome 21Feb 15, 2023
Kugelberg-Welander disease1Apr 27, 2022
Lamb-Shaffer syndrome1Nov 6, 2020
Leber congenital amaurosis 11Feb 15, 2023
Lissencephaly1Oct 23, 2019
Loeys-Dietz syndrome 41Feb 13, 2024
MASA syndrome1Feb 18, 2022
Macrocephaly, acquired, with impaired intellectual development1Feb 18, 2022
Marfan syndrome1Feb 18, 2022
Microcephaly1Oct 23, 2019
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Feb 15, 2023
Mirror movements 11Feb 15, 2023
Mitochondrial DNA depletion syndrome 132Feb 18, 2022
Myhre syndrome1Feb 15, 2023
Myoclonic-astatic epilepsy1Feb 18, 2022
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Nov 6, 2020
Neurodegeneration with brain iron accumulation 51Jun 12, 2019
Neurodevelopmental abnormality109Oct 22, 2021
Neurodevelopmental delay1Feb 18, 2022
Neurodevelopmental disorder with hypotonia and dysmorphic facies1Feb 15, 2023
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Feb 13, 2024
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures2Feb 13, 2024
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Feb 15, 2023
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Feb 13, 2024
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies1Feb 15, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities2Feb 15, 2023
Noonan syndrome 11Feb 18, 2022
Noonan syndrome 32Nov 6, 2020
O'Donnell-Luria-Rodan syndrome1Feb 15, 2023
Ogden syndrome1Feb 18, 2022
Okur-Chung neurodevelopmental syndrome1Feb 15, 2023
Olivopontocerebellar hypoplasia1Feb 18, 2022
PERCHING syndrome1Feb 13, 2024
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Feb 18, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Nov 6, 2020
Paucity of anterior horn motor neurons1Oct 23, 2019
Phelan-McDermid syndrome1Feb 15, 2023
Postaxial polydactyly1Jun 12, 2019
Progressive sclerosing poliodystrophy2Feb 13, 2024
RYR1-related myopathy2Feb 13, 2024
Radio-Tartaglia syndrome1Oct 29, 2021
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Nov 6, 2020
Rett syndrome2Nov 6, 2020
Rett syndrome, congenital variant2Feb 15, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations1Feb 15, 2023
Seizure5Jun 12, 2019
Sensorineural hearing loss disorder1Feb 18, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Feb 15, 2023
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Jun 12, 2019
Severe intellectual disability-progressive spastic diplegia syndrome3Feb 18, 2022
Severe intrauterine growth retardation1Oct 23, 2019
Sifrim-Hitz-Weiss syndrome2Nov 6, 2020
Sirenomelia1Feb 12, 2020
Skraban-Deardorff syndrome1Feb 15, 2023
Smith-Magenis syndrome1Feb 15, 2023
Snijders Blok-Campeau syndrome3Feb 18, 2022
Snijders blok-fisher syndrome3Feb 15, 2023
Sotos syndrome1Feb 18, 2022
Spinocerebellar ataxia 471Nov 6, 2020
Syndromic X-linked intellectual disability Claes-Jensen type2Feb 15, 2023
Syndromic X-linked intellectual disability Siderius type1Nov 6, 2020
Vissers-Bodmer syndrome2Feb 18, 2022
Weiss-kruszka syndrome1Feb 15, 2023
Wiedemann-Steiner syndrome2Feb 15, 2023
X-linked intellectual disability-cerebellar hypoplasia syndrome1Feb 13, 2024
X-linked intellectual disability-psychosis-macroorchidism syndrome2Feb 15, 2023
X-linked intellectual disability-short stature-overweight syndrome1Nov 6, 2020
ZTTK syndrome1Feb 18, 2022