ClinVar Miner

Variants from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Location: France  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
193 181 173 264 0 811

Gene and significance breakdown #

Total genes and gene combinations: 424
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
MECP2 6 3 3 0 12
AUTS2 2 2 1 4 9
CHD8 4 1 1 3 9
DYNC1H1 0 1 3 4 8
FOXP1 4 2 1 1 8
KMT2C 2 0 1 5 8
SPEN 1 1 1 5 8
ANKRD11 4 0 0 3 7
KMT2A 2 1 2 2 7
KMT2D 2 1 0 4 7
SCN2A 3 2 1 1 7
AHDC1 4 0 0 2 6
ARID1B 3 1 1 1 6
ASXL3 3 0 0 3 6
CHD2 2 2 0 2 6
CHD3 2 2 0 2 6
GRIN2B 5 0 0 1 6
MYT1L 2 2 0 2 6
NBEA 2 1 1 2 6
SETD2 0 1 0 5 6
SETD5 5 0 1 0 6
ASH1L 0 0 0 5 5
CACNA1A 0 2 0 3 5
CAMTA1 1 0 0 4 5
CIC 0 2 0 3 5
NTRK2 0 0 2 3 5
POU3F3 3 1 0 1 5
SCN8A 0 5 0 0 5
SETD1A 0 1 2 2 5
SMARCB1 0 2 1 2 5
TCF20 2 0 0 3 5
TRIO 1 0 0 4 5
CASK 3 0 0 1 4
DYRK1A 2 2 0 0 4
KAT6A 1 2 0 1 4
KDM3B 0 1 1 2 4
NAA15 0 2 2 0 4
NIPBL 0 4 0 0 4
NRXN1 2 0 1 1 4
PRPF8 0 0 2 2 4
SATB2 4 0 0 0 4
TRIP12 0 2 0 2 4
TRRAP 0 1 0 3 4
USP9X 2 1 1 0 4
AFF4 1 0 1 1 3
ANK2 1 0 0 2 3
ARID2 0 0 0 3 3
BRD4 0 2 0 1 3
BRPF1 1 1 1 0 3
BRWD3 0 2 1 0 3
CACNA1C 0 0 0 3 3
CACNA1G 1 0 0 2 3
CAMK2B 0 0 2 1 3
CHD7 0 0 1 2 3
CLTC 2 1 0 0 3
CSNK2A1 1 2 0 0 3
CUL3 1 1 1 0 3
DDX3X 3 0 0 0 3
DEAF1 0 2 0 1 3
DIP2A 0 1 0 2 3
EBF3 1 0 1 1 3
FOXG1 1 1 1 0 3
GATAD2B 1 1 1 0 3
GRIN1 0 2 0 1 3
HDAC8 1 2 0 0 3
HUWE1 0 0 1 2 3
IRF2BPL 1 0 1 1 3
KCNQ2 0 0 1 2 3
KDM5B 1 0 1 1 3
KDM5C 2 1 0 0 3
MAGEL2 1 1 1 0 3
MED13 0 0 0 3 3
NFIB 0 1 0 2 3
PPP3CA 0 0 1 2 3
RAI1 1 1 0 1 3
SHANK3 3 0 0 0 3
SLC6A8 1 1 1 0 3
SMARCA2 0 0 2 1 3
SNHG14, UBE3A 1 1 1 0 3
SON 2 0 0 1 3
SOX5 0 1 0 2 3
SPTAN1 0 0 1 2 3
SPTBN1 0 1 0 2 3
SRCAP 0 0 1 2 3
STXBP1 1 2 0 0 3
SYNGAP1 1 1 1 0 3
TBX6 0 0 3 0 3
TCF4 1 1 1 0 3
TNRC6B 1 0 1 1 3
ZFHX3 0 0 0 3 3
ZMIZ1 0 0 2 1 3
ABL1 0 0 1 1 2
AGO1 0 2 0 0 2
ARID1A 0 1 0 1 2
ASNS, CZ1P-ASNS 0 1 1 0 2
ASXL1 1 0 0 1 2
ASXL2 0 1 1 0 2
ATRX 0 0 2 0 2
BCL11A 0 0 0 2 2
CAMK2A 0 1 1 0 2
CDC42BPB 0 1 1 0 2
CDH23 0 0 2 0 2
CEP104 0 1 1 0 2
CHD4 0 1 0 1 2
CNOT1 0 2 0 0 2
COQ4 0 2 0 0 2
CTNNB1 2 0 0 0 2
CTNNB1, LOC126806659 2 0 0 0 2
DCC 1 1 0 0 2
DEPDC5 1 0 1 0 2
DNMT3A 0 1 0 1 2
DPF2 0 0 0 2 2
EHMT1 2 0 0 0 2
EP300, LOC126863158 2 0 0 0 2
FBN2 0 0 0 2 2
FBXL4 0 2 0 0 2
FBXO11 0 1 0 1 2
FMN2 0 0 0 2 2
GNAI1 0 1 1 0 2
GRIA1 1 0 0 1 2
GRIN2A 1 1 0 0 2
HECW2 0 0 1 1 2
HNRNPU 1 0 0 1 2
IQSEC1 0 0 1 1 2
KANSL1 0 0 0 2 2
KAT6B 1 1 0 0 2
KCNH1 0 0 0 2 2
KCNK3 0 0 0 2 2
KCNK9 0 1 1 0 2
KCNMA1 0 1 1 0 2
KCNQ3 0 0 1 1 2
KDM6B, LOC121587574 0 0 2 0 2
KIF1A 0 1 1 0 2
KMT2E 0 1 0 1 2
LOC105371856, TANC2 0 0 0 2 2
MED12L, P2RY12 0 0 1 1 2
MN1 1 0 0 1 2
MYH10 0 0 1 1 2
NAA10 0 2 0 0 2
NALCN 0 0 1 1 2
NEDD4L 0 0 0 2 2
NINL 0 0 2 0 2
NR4A2 0 1 0 1 2
OPHN1 1 0 1 0 2
PBX1 2 0 0 0 2
PCDH12, RNF14 1 1 0 0 2
PDGFB 0 2 0 0 2
PER2 0 0 0 2 2
PGAP2 0 0 0 2 2
PHF2 0 0 0 2 2
PHIP 0 0 0 2 2
PIEZO2 0 2 0 0 2
PIGO 1 1 0 0 2
POGZ 1 1 0 0 2
POLG, POLGARF 2 0 0 0 2
PRMT7 2 0 0 0 2
PTPN6 0 0 2 0 2
PUF60 1 1 0 0 2
RERE 1 0 0 1 2
RFX3 0 1 1 0 2
RNASEH2B 1 0 1 0 2
RYR1 2 0 0 0 2
SETBP1 1 0 1 0 2
SKI 0 1 0 1 2
SLC12A2 0 0 1 1 2
SMG8 2 0 0 0 2
TAF1 0 1 1 0 2
TANC2 0 0 0 2 2
TCTN1 0 1 1 0 2
THOC2 0 1 1 0 2
TRAPPC9 1 1 0 0 2
WDR26 0 1 0 1 2
ZDHHC9 0 0 1 1 2
ZMYM2 0 2 0 0 2
ZNF827 0 0 1 1 2
ACSL4 0 0 1 0 1
ACTC1, GJD2-DT 0 1 0 0 1
ADNP 0 0 1 0 1
AEBP1 0 1 0 0 1
AP4E1 0 1 0 0 1
AP4M1 1 0 0 0 1
ARFGEF1 0 0 1 0 1
ARHGEF9 1 0 0 0 1
ARV1 1 0 0 0 1
ATP1A2 0 1 0 0 1
ATP6V1A 0 0 1 0 1
BCL11B 1 0 0 0 1
BICD2 0 0 1 0 1
BICRA, LOC121627883 0 0 1 0 1
BICRAL 0 0 1 0 1
BMPR2 0 0 0 1 1
BPTF 0 0 0 1 1
CACNA1D 0 0 0 1 1
CALU 0 1 0 0 1
CAPRIN1 0 0 0 1 1
CASZ1 0 0 0 1 1
CDK13 1 0 0 0 1
CDX2 0 1 0 0 1
CELF4 0 1 0 0 1
CELSR3 0 0 0 1 1
CFAP96, UFSP2 1 0 0 0 1
CHD1 0 0 0 1 1
CLDN5 0 0 1 0 1
CLTC, LOC126862609 0 0 0 1 1
CNNM2 0 0 1 0 1
CNOT3 0 0 0 1 1
COL11A1 0 0 0 1 1
CORO1A 0 0 1 0 1
CREBBP 0 0 0 1 1
CSNK2B 0 1 0 0 1
CTNNB1, LOC126806658 1 0 0 0 1
CTSF 0 0 1 0 1
CUX2 0 0 0 1 1
DGCR8 0 0 1 0 1
DIP2B 0 0 0 1 1
DLG3 0 1 0 0 1
DLG4 1 0 0 0 1
DLGAP1 0 0 1 0 1
DLL1 0 1 0 0 1
DLL1, LOC126859913 0 1 0 0 1
DNM1 0 0 1 0 1
DOT1L 0 0 1 0 1
DPP6 0 0 0 1 1
DPYSL5 0 0 0 1 1
DYNC1H1, LOC126862060 0 0 0 1 1
EBP 0 0 0 1 1
EED 0 1 0 0 1
EEF1A2 0 0 1 0 1
EIF4A1, SENP3-EIF4A1 0 0 1 0 1
EIF5A 1 0 0 0 1
ELP4, LOC105980003 0 0 0 1 1
EPCAM 1 0 0 0 1
ERF 0 1 0 0 1
EXOSC3 1 0 0 0 1
FBN1 0 1 0 0 1
FBXO11, MSH6 0 1 0 0 1
FGFR3 0 0 0 1 1
FIGN 0 0 1 0 1
FLNA, LOC107988032 0 1 0 0 1
FMR1 0 0 1 0 1
FSD1L 1 0 0 0 1
FTSJ1 0 0 1 0 1
GABBR2 0 0 1 0 1
GABRA1 0 0 0 1 1
GABRA5 0 0 0 1 1
GABRB3 0 1 0 0 1
GABRD 0 0 0 1 1
GAPVD1 0 0 0 1 1
GATA6 0 0 1 0 1
GGNBP2 0 0 1 0 1
GIGYF1 1 0 0 0 1
GIT1, TP53I13 0 0 1 0 1
GLI2 1 0 0 0 1
GNAS 1 0 0 0 1
GNB1 1 0 0 0 1
GNB2 0 1 0 0 1
GRIA2 1 0 0 0 1
GRIA3 0 0 1 0 1
GRIA4, LOC129390350 0 0 0 1 1
GRIK2 0 0 0 1 1
GRIN2D 0 0 0 1 1
GUCY2D 1 0 0 0 1
H1-4 0 0 0 1 1
HCFC1 0 0 1 0 1
HCN1 0 0 1 0 1
HDAC4 0 0 1 0 1
HECTD4 0 1 0 0 1
HIVEP2 0 0 0 1 1
HK1 1 0 0 0 1
HSD17B10 0 1 0 0 1
IL1RAPL1 0 0 1 0 1
INTS6 0 0 1 0 1
IPO9, NAV1 0 0 0 1 1
IQSEC2 0 1 0 0 1
IRAK1BP1, PHIP 0 1 0 0 1
IRF6 1 0 0 0 1
KCNA2 0 0 0 1 1
KCNB1 0 0 1 0 1
KCNQ5 0 1 0 0 1
KCNT1 0 0 0 1 1
KDM4B 0 0 1 0 1
KDM6A 1 0 0 0 1
KDM6B 1 0 0 0 1
KIF11 0 0 1 0 1
KIF21A 0 1 0 0 1
KIF5C 0 0 1 0 1
KIRREL3 0 0 0 1 1
KLF9-DT, TRPM3 0 0 0 1 1
KLHL7 0 1 0 0 1
KMT2B 0 0 1 0 1
KRAS 0 1 0 0 1
L1CAM 1 0 0 0 1
LAMA5 0 1 0 0 1
LAS1L 0 0 1 0 1
LOC100507346, PTCH1 0 0 0 1 1
LOC105370589, NRXN3 0 0 1 0 1
LOC108281177, SOX2, SOX2-OT 0 1 0 0 1
LOC121627969, SYN1 0 0 1 0 1
LOC126806798, ZNF148 0 0 1 0 1
LOC126862611, TLK2 0 1 0 0 1
LOC126863256, WDR45 1 0 0 0 1
LOC129992330, SEPSECS 0 0 1 0 1
LOC129995449, SQSTM1 1 0 0 0 1
LOC130058173, MAPK8IP3 0 0 1 0 1
LRP1 0 0 1 0 1
LZTR1 0 0 1 0 1
MANBA 0 1 0 0 1
MAPRE2 1 0 0 0 1
MARK2 0 0 0 1 1
MAU2 0 0 0 1 1
MBD5 1 0 0 0 1
MED12 1 0 0 0 1
MED12L 0 0 1 0 1
MED13L 0 1 0 0 1
MEF2C 0 1 0 0 1
MEIS2 1 0 0 0 1
MIB1 0 0 0 1 1
MORC2 1 0 0 0 1
MSL3 1 0 0 0 1
MTF1 0 0 1 0 1
MTOR 0 0 0 1 1
MYRF 0 0 1 0 1
NARS1 1 0 0 0 1
NEFL 0 1 0 0 1
NFE2L2 0 0 0 1 1
NGLY1 0 1 0 0 1
NLGN3 0 0 1 0 1
NLGN4X 0 0 1 0 1
NPTN 0 0 1 0 1
NR2F1 0 1 0 0 1
NRG2 0 0 1 0 1
NRXN3 0 0 0 1 1
NSD1 0 1 0 0 1
NUP214 0 0 1 0 1
NUS1 1 0 0 0 1
PAX6 0 0 1 0 1
PCDH19 0 0 0 1 1
PDHA1 0 0 0 1 1
PDS5A 0 0 0 1 1
PHACTR1 0 0 0 1 1
PHF12 0 0 0 1 1
PHF21A 0 0 0 1 1
PHF3 0 0 0 1 1
PHF6 0 0 1 0 1
PHF8 1 0 0 0 1
PKP4 0 0 0 1 1
PLEKHG2 0 0 0 1 1
POLR2A 0 0 1 0 1
POMT1 0 0 1 0 1
PORCN 0 1 0 0 1
PPP2R1A 0 0 1 0 1
PQBP1 0 1 0 0 1
PTCH2 0 0 1 0 1
PTCHD1 0 0 1 0 1
PTEN 1 0 0 0 1
PTPN11 1 0 0 0 1
PUM1 0 0 1 0 1
PUM2 0 0 1 0 1
PURA 1 0 0 0 1
QRICH1 0 0 1 0 1
RAB39B 0 1 0 0 1
RAC1 0 0 0 1 1
RALGAPB 0 0 0 1 1
REST 1 0 0 0 1
RIMS1 0 1 0 0 1
RPS6KA3 0 1 0 0 1
SATB1 0 0 1 0 1
SCAF4 1 0 0 0 1
SCAF8 0 0 0 1 1
SCN3A 0 0 0 1 1
SENP8 0 0 1 0 1
SHANK2 0 0 0 1 1
SLC2A1 0 1 0 0 1
SLC6A1 0 1 0 0 1
SMAD4 1 0 0 0 1
SMARCC1 0 0 1 0 1
SMC3 0 0 0 1 1
SMG7 0 0 1 0 1
SMG9 1 0 0 0 1
SMN1 1 0 0 0 1
SMS 0 0 1 0 1
SOS2 0 0 0 1 1
SOX6 0 0 0 1 1
SPOP 0 1 0 0 1
SRRM2 0 0 0 1 1
SRSF1 0 0 1 0 1
SRSF11 0 0 0 1 1
SSBP3 0 0 1 0 1
STX1A 0 0 1 0 1
STXBP5 0 0 0 1 1
SUZ12 0 0 1 0 1
SYNE1 0 0 0 1 1
SZT2 0 1 0 0 1
TANGO2 0 1 0 0 1
TAOK1 1 0 0 0 1
TCF12 0 1 0 0 1
TCF7L2 0 0 1 0 1
TET3 0 0 0 1 1
TFAP2A 0 0 1 0 1
TGFB2 1 0 0 0 1
TGFB3 0 1 0 0 1
TLK2 0 1 0 0 1
TM9SF4 0 0 0 1 1
TNNI2 1 0 0 0 1
TRIP11 0 0 0 1 1
TSC2 0 0 0 1 1
TTBK1 0 0 0 1 1
TUBB2A 0 0 1 0 1
TUBB3 0 1 0 0 1
UBE4B 0 0 1 0 1
UBR4 0 0 1 0 1
UNC5B 0 0 0 1 1
UNC80 1 0 0 0 1
UPF1 0 0 0 1 1
VPS53 0 0 1 0 1
WAC 1 0 0 0 1
WDFY3 0 0 0 1 1
WDR45 0 1 0 0 1
WWOX 0 1 0 0 1
ZBTB18 0 1 0 0 1
ZBTB20 0 0 1 0 1
ZNF292 0 1 0 0 1
ZNF462 0 1 0 0 1
ZSWIM6 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 161
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Autism spectrum disorder 31 31 61 148 271
Developmental disorder 29 23 78 66 196
Neurodevelopmental abnormality 19 11 29 50 109
Intellectual disability 9 9 2 0 20
Coffin-Siris syndrome 1 3 1 0 0 4
Seizure; Intellectual disability 1 3 0 0 4
Chromosome 2q32-q33 deletion syndrome 3 0 0 0 3
Cornelia de Lange syndrome 1 0 3 0 0 3
DYRK1A-related intellectual disability syndrome 1 2 0 0 3
Intellectual disability, X-linked 99, syndromic, female-restricted 2 1 0 0 3
Intellectual disability, autosomal dominant 39 1 2 0 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 1 0 0 3
Kabuki syndrome 1 2 1 0 0 3
Severe intellectual disability-progressive spastic diplegia syndrome 3 0 0 0 3
Snijders Blok-Campeau syndrome 1 2 0 0 3
Snijders blok-fisher syndrome 2 1 0 0 3
Alzahrani-Kuwahara syndrome 2 0 0 0 2
Angelman syndrome 1 1 0 0 2
Arthrogryposis, distal, with impaired proprioception and touch 0 2 0 0 2
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1 0 0 2
Basal ganglia calcification, idiopathic, 5 0 2 0 0 2
Cerebellar ataxia; Intellectual disability 0 2 0 0 2
Clark-Baraitser syndrome 0 2 0 0 2
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 1 0 1 0 2
Cornelia de Lange syndrome 6 0 2 0 0 2
Creatine transporter deficiency 1 1 0 0 2
Developmental and epileptic encephalopathy, 42 0 2 0 0 2
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 1 0 0 2
Hyperphosphatasia with intellectual disability syndrome 2 1 1 0 0 2
Intellectual developmental disorder with dysmorphic facies and ptosis 1 1 0 0 2
Intellectual disability, X-linked 93 0 2 0 0 2
Intellectual disability, autosomal dominant 50 0 2 0 0 2
Intellectual disability, autosomal dominant 56 1 1 0 0 2
Intellectual disability, autosomal dominant 8 0 2 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 0 0 0 2
KBG syndrome 2 0 0 0 2
Kleefstra syndrome 1 2 0 0 0 2
Mitochondrial DNA depletion syndrome 13 0 2 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 2 0 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 2 0 0 2
Noonan syndrome 3 1 1 0 0 2
Progressive sclerosing poliodystrophy 2 0 0 0 2
RYR1-related myopathy 2 0 0 0 2
Rett syndrome 2 0 0 0 2
Rett syndrome, congenital variant 1 1 0 0 2
Sifrim-Hitz-Weiss syndrome 1 1 0 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 1 1 0 0 2
Vissers-Bodmer syndrome 0 2 0 0 2
Wiedemann-Steiner syndrome 2 0 0 0 2
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 1 0 0 2
8q24.3 microdeletion syndrome 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 1
Abnormal facial shape; Intellectual disability; Postaxial polydactyly 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 1
Autism; Seizure; Intellectual disability 0 1 0 0 1
Autosomal dominant popliteal pterygium syndrome 1 0 0 0 1
Beta-D-mannosidosis 0 1 0 0 1
Birk-Barel syndrome 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 1
CEBALID syndrome 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 0 0 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 0 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 0 0 0 1
Congenital diarrhea 5 with tufting enteropathy 1 0 0 0 1
Congenital fibrosis of extraocular muscles type 1 0 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 1
Cowden syndrome 1 1 0 0 0 1
Craniosynostosis 4 0 1 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 1
Developmental and epileptic encephalopathy 98 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 1
Developmental and epileptic encephalopathy, 18 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 0 1 0 0 1
Developmental and epileptic encephalopathy, 38 1 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 1 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 0 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 1 0 0 1
Distal arthrogryposis type 2B1 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 1
Faundes-Banka syndrome 1 0 0 0 1
Fetal akinesia deformation sequence 1; Lissencephaly; Microcephaly; Abnormal cerebellum morphology; Paucity of anterior horn motor neurons; Severe intrauterine growth retardation; Hypoplasia of the pons 1 0 0 0 1
Fibromatosis, gingival, 5 1 0 0 0 1
Focal dermal hypoplasia 0 1 0 0 1
GNAS-related disorders 1 0 0 0 1
Gorlin syndrome 0 0 1 0 1
HSD10 mitochondrial disease 0 1 0 0 1
Hereditary spastic paraplegia 50 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 1 1 0 0 0 1
Hypertrophic cardiomyopathy 11 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 1 0 0 0 1
Intellectual developmental disorder 62 1 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 67 1 0 0 0 1
Intellectual disability, X-linked 1 0 1 0 0 1
Intellectual disability, X-linked 102 1 0 0 0 1
Intellectual disability, X-linked 19 0 1 0 0 1
Intellectual disability, X-linked 90 0 1 0 0 1
Intellectual disability, X-linked, syndromic 33 0 1 0 0 1
Intellectual disability, autosomal dominant 14 0 1 0 0 1
Intellectual disability, autosomal dominant 15 0 1 0 0 1
Intellectual disability, autosomal dominant 45 0 1 0 0 1
Intellectual disability, autosomal dominant 46 0 1 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 1
Intellectual disability, autosomal dominant 55, with seizures 1 0 0 0 1
Intellectual disability, autosomal dominant 57 0 1 0 0 1
Intellectual disability, autosomal dominant 9 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 1
Kleefstra syndrome 2 1 0 0 0 1
Kugelberg-Welander disease 1 0 0 0 1
Lamb-Shaffer syndrome 0 1 0 0 1
Leber congenital amaurosis 1 1 0 0 0 1
Loeys-Dietz syndrome 4 1 0 0 0 1
MASA syndrome 1 0 0 0 1
Macrocephaly, acquired, with impaired intellectual development 0 1 0 0 1
Marfan syndrome 0 1 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 0 0 0 1
Mirror movements 1 1 0 0 0 1
Myhre syndrome 1 0 0 0 1
Myoclonic-astatic epilepsy 0 1 0 0 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 1 0 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 0 1
Neurodevelopmental delay 1 0 0 0 1
Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 1 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 0 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 1 0 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 0 0 1
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 0 1 0 0 1
Noonan syndrome 1 1 0 0 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 0 1
Ogden syndrome 0 1 0 0 1
Okur-Chung neurodevelopmental syndrome 0 1 0 0 1
Olivopontocerebellar hypoplasia 1 0 0 0 1
PERCHING syndrome 0 1 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 1
Radio-Tartaglia syndrome 1 0 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 0 1
Sensorineural hearing loss disorder; Developmental disorder 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 0 1
Sirenomelia 0 1 0 0 1
Skraban-Deardorff syndrome 0 1 0 0 1
Smith-Magenis syndrome 0 1 0 0 1
Sotos syndrome 0 1 0 0 1
Spinocerebellar ataxia 47 0 0 1 0 1
Syndromic X-linked intellectual disability Siderius type 1 0 0 0 1
Weiss-kruszka syndrome 0 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 1 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 1 0 0 1
ZTTK syndrome 1 0 0 0 1

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