ClinVar Miner

Variants from Génétique des Maladies du Développement, Hospices Civils de Lyon

Location: France  Primary collection method: clinical testing
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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 pathogenic, low penetrance total
366 211 51 32 8 5 671

Gene and significance breakdown #

Total genes and gene combinations: 265
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance total
KCNQ2 21 10 0 0 0 0 31
SCN2A 11 7 2 4 0 0 24
LOC102724058, SCN1A 10 10 1 0 0 0 20
SCN1A 15 4 0 0 0 0 19
GRIN2A 10 3 5 0 0 0 18
SYNGAP1 14 1 0 2 0 0 17
DEPDC5 13 2 1 0 0 0 16
KCNT1 8 5 2 0 0 0 15
CDKL5 8 4 0 1 0 0 13
PCDH19 10 2 0 0 0 0 12
MECP2 6 0 3 2 0 0 11
SLC6A1 3 6 1 1 0 0 11
ATP1A3 5 4 1 0 0 0 10
SCN8A 4 5 1 0 0 0 10
SLC2A1 6 4 0 0 0 0 10
CACNA1A 4 2 0 1 1 0 8
CHD2 2 5 1 0 0 0 8
STXBP1 6 2 0 0 0 0 8
GRIN2B 3 1 1 2 0 0 7
EHMT1 2 2 1 0 0 0 5
GNAO1 3 1 0 1 0 0 5
HNRNPU 3 1 0 0 1 0 5
IQSEC2 3 2 0 0 0 0 5
KMT2D 3 2 0 0 0 0 5
NEXMIF 5 0 0 0 0 0 5
ALDH7A1 1 3 0 0 0 0 4
ARID1B 3 1 0 0 0 0 4
ATP1A2 2 1 0 1 0 0 4
CYFIP2 1 2 0 1 0 0 4
DYRK1A 3 1 0 0 0 0 4
LOC126863256, WDR45 2 2 0 0 0 0 4
MBD5 1 1 1 1 0 0 4
MVP-DT, PRRT2 2 2 0 0 0 0 4
SCN1B 0 0 3 1 0 0 4
SHANK3 4 0 0 0 0 0 4
SNHG14, UBE3A 3 1 0 0 0 0 4
SPTAN1 0 0 0 4 0 0 4
TCF4 3 0 0 1 0 0 4
ADNP 3 0 0 0 0 0 3
ANKRD11 2 1 0 0 0 0 3
ARHGEF9 1 2 0 0 0 0 3
CDK13 1 2 0 0 0 0 3
CNKSR2 1 1 1 0 0 0 3
CUX2 0 1 0 0 2 0 3
DNMT3A 0 3 0 0 0 0 3
FOXG1 1 1 0 0 1 0 3
GABRA1 2 1 0 0 0 0 3
GNB1 2 1 0 0 0 0 3
GRIN1 1 2 0 0 0 0 3
KANSL1 3 0 0 0 0 0 3
KCNB1 2 1 0 0 0 0 3
MED13L 2 1 0 0 0 0 3
MYT1L, PXDN 0 0 0 0 0 3 3
SETD5 2 1 0 0 0 0 3
SON 3 0 0 0 0 0 3
TRIP12 2 1 0 0 0 0 3
TUBA1A 1 1 1 0 0 0 3
ACTB 0 2 0 0 0 0 2
ALDH3A2 2 0 0 0 0 0 2
ALG13 1 0 1 0 0 0 2
ALMS1 2 0 0 0 0 0 2
ARMCX5-GPRASP2, GPRASP1 0 0 2 0 0 0 2
CASK 0 2 0 0 0 0 2
CHD7 2 0 0 0 0 0 2
CLCN4 1 1 0 0 0 0 2
DDX3X 2 0 0 0 0 0 2
EEF1A2 1 1 0 0 0 0 2
EMC1 1 1 0 0 0 0 2
FBXO11 0 2 0 0 0 0 2
FGF12 1 1 0 0 0 0 2
GABRB3 0 1 1 0 0 0 2
GABRG2 0 1 0 1 0 0 2
GATAD2B 2 0 0 0 0 0 2
GRIA3 0 1 0 1 0 0 2
HDAC8 1 0 1 0 0 0 2
IL1RAPL1 1 0 1 0 0 0 2
KCNA2 1 1 0 0 0 0 2
KCNMA1 0 2 0 0 0 0 2
KCNQ3 0 2 0 0 0 0 2
KDM5C 1 1 0 0 0 0 2
KDM6A 1 1 0 0 0 0 2
KMT5B 2 0 0 0 0 0 2
LGI1 0 2 0 0 0 0 2
LOC125467768, PCDH19 2 0 0 0 0 0 2
MAN2B1 2 0 0 0 0 0 2
MED12 0 0 2 0 0 0 2
MEF2C 0 1 0 1 0 0 2
MTOR 1 1 0 0 0 0 2
MYT1L 0 0 0 0 0 2 2
NCKAP1 1 1 0 0 0 0 2
NFIX 2 0 0 0 0 0 2
NR2F1 0 2 0 0 0 0 2
NSD1 1 1 0 0 0 0 2
PITX1 0 2 0 0 0 0 2
POGZ 1 1 0 0 0 0 2
PORCN 2 0 0 0 0 0 2
PPP2R1A 2 0 0 0 0 0 2
PRMT7 0 2 0 0 0 0 2
RORB 0 2 0 0 0 0 2
RPS6KA3 1 1 0 0 0 0 2
RTTN 1 1 0 0 0 0 2
SATB2 1 1 0 0 0 0 2
SETD1B 2 0 0 0 0 0 2
SHANK2 1 0 1 0 0 0 2
SIK1 0 0 0 2 0 0 2
SLC6A8 2 0 0 0 0 0 2
SMARCA4 0 2 0 0 0 0 2
SOX5 1 1 0 0 0 0 2
STX1B 2 0 0 0 0 0 2
SYN1 2 0 0 0 0 0 2
TRIO 0 1 1 0 0 0 2
WDR45 2 0 0 0 0 0 2
YWHAG 2 0 0 0 0 0 2
ZNF292 1 1 0 0 0 0 2
ABHD3, ACAA2, AFG3L2, AKAIN1, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, ARHGAP28, ARK2C, ARK2N, ASXL3, ATP5F1A, B4GALT6, C18orf21, C18orf32, C18orf54, CABLES1, CABYR, CCDC178, CCDC68, CDH2, CELF4, CEP192, CEP76, CFAP53, CHMP1B, CHST9, CIDEA, CTAGE1, CTIF, CXXC1, DCC, DLGAP1, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DSG4, DTNA, DYM, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, EPB41L3, EPG5, ESCO1, FAM210A, FHOD3, GALNT1, GAREM1, GATA6, GNAL, GREB1L, HAUS1, HDHD2, HRH4, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KCTD1, KIAA1328, KLHL14, L3MBTL4, LAMA1, LAMA3, LDLRAD4, LIPG, LOXHD1, LPIN2, LRRC30, MAPK4, MAPRE2, MBD1, MBD2, MC2R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR133A1, MIR187, MOCOS, MPPE1, MRO, MTCL1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NDC80, NDUFV2, NOL4, NPC1, OSBPL1A, PIAS2, PIEZO2, PIK3C3, POLI, POTEC, PPP4R1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RBBP8, RIOK3, RIT2, RMC1, RNF125, RNF138, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, SEH1L, SETBP1, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC35G4, SLC39A6, SMAD2, SMAD4, SMAD7, SMCHD1, SNRPD1, SPIRE1, SS18, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TGIF1, TMEM200C, TMEM241, TPGS2, TRAPPC8, TTC39C, TTR, TUBB6, TWSG1, TXNDC2, VAPA, ZBTB14, ZBTB7C, ZNF24, ZNF396, ZNF397, ZNF519, ZNF521, ZSCAN30 1 0 0 0 0 0 1
ACTG1 0 1 0 0 0 0 1
ADAMTSL2 1 0 0 0 0 0 1
ADARB1 0 0 0 0 1 0 1
ADCY1, CCDC201, CCM2, IGFBP1, IGFBP3, LOC102723446, LOC105375266, LOC108281173, LOC121740680, LOC121740681, LOC123956143, LOC126860021, LOC126860022, LOC129389790, LOC129998399, LOC129998400, LOC129998401, LOC129998402, LOC129998403, LOC129998404, LOC132089545, LOC132090779, LOC730234, NACAD, RAMP3, SNORA5A, SNORA5B, SNORA5C, TBRG4 1 0 0 0 0 0 1
AIFM1, RAB33A 0 0 0 0 1 0 1
ALDH4A1 0 1 0 0 0 0 1
ARID2 1 0 0 0 0 0 1
ASH1L 0 0 1 0 0 0 1
ASXL3 1 0 0 0 0 0 1
ATP1A1 0 1 0 0 0 0 1
ATP8A2 1 0 0 0 0 0 1
BCL11A 1 0 0 0 0 0 1
BCL11B 1 0 0 0 0 0 1
BICRA 1 0 0 0 0 0 1
BRPF1 1 0 0 0 0 0 1
C1orf105, PIGC 1 1 0 0 0 0 1
CACNA1E 1 0 0 0 0 0 1
CAMK2A 0 1 0 0 0 0 1
CDC42 1 0 0 0 0 0 1
CDKL5, RS1 0 1 0 0 0 0 1
CHAMP1 1 0 0 0 0 0 1
CHD2, LOC126862230 0 0 1 0 0 0 1
CHD3 1 0 0 0 0 0 1
CHD4 0 0 1 0 0 0 1
CHRNA2 0 1 0 0 0 0 1
COL1A2 0 1 0 0 0 0 1
COL3A1 1 0 0 0 0 0 1
COQ9, LOC112469007 1 0 0 0 0 0 1
CRBN 1 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 1
CSTB 1 0 0 0 0 0 1
CTNNB1 1 0 0 0 0 0 1
DCX 1 0 0 0 0 0 1
DDHD1 1 0 0 0 0 0 1
DLG4, LOC126862479 0 1 0 0 0 0 1
DMD 0 0 1 0 0 0 1
DSP 1 0 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 1
FARS2 0 1 0 0 0 0 1
FBXO11, MSH6 0 1 0 0 0 0 1
FLNA 1 0 0 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 1
FOLR1 0 0 1 0 0 0 1
FOXP1 0 1 0 0 0 0 1
FOXP1, LOC126806714 0 1 0 0 0 0 1
FOXP2 0 0 1 0 0 0 1
FZR1 0 1 0 0 0 0 1
GABBR2 0 0 0 1 0 0 1
GABRA2 1 0 0 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 1
GNB5 0 1 0 0 0 0 1
GPT2 0 1 0 0 0 0 1
GRIN2D 0 0 1 0 0 0 1
GRIPAP1 0 0 0 1 0 0 1
GRM1 1 0 0 0 0 0 1
GRM6, ZNF454 1 0 0 0 0 0 1
GRM7 1 0 0 0 0 0 1
HECW2 0 1 0 0 0 0 1
HEXA 1 0 0 0 0 0 1
HIVEP2 1 0 0 0 0 0 1
HUWE1 1 0 0 0 0 0 1
IRAK1BP1, PHIP 1 0 0 0 0 0 1
KAT6A 1 0 0 0 0 0 1
KAT6B 1 0 0 0 0 0 1
KCNC1 0 1 0 0 0 0 1
KCND3 0 1 0 0 0 0 1
KCNQ5 0 1 0 0 0 0 1
KCNT2 0 0 0 1 0 0 1
KDM1A 0 1 0 0 0 0 1
KDM5C, LOC130068308 0 1 0 0 0 0 1
KLHL20 0 1 0 0 0 0 1
KMT2A 0 1 0 0 0 0 1
KMT2B 1 0 0 0 0 0 1
L1CAM 1 0 0 0 0 0 1
LOC126806253, STAMBP 1 0 0 0 0 0 1
LOC126806798, ZNF148 1 0 0 0 0 0 1
LOC128772343, SOX6 1 0 0 0 0 0 1
LOC130002651, STXBP1 1 0 0 0 0 0 1
LRIG2 1 0 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 0 1
MEIS2 1 0 0 0 0 0 1
MID1 1 0 0 0 0 0 1
MORC2 1 0 0 0 0 0 1
MTO1 1 0 0 0 0 0 1
MVK 1 0 0 0 0 0 1
NCDN 0 1 0 0 0 0 1
NEDD4L 0 0 1 0 0 0 1
NHLRC1 1 0 0 0 0 0 1
NOTCH1 1 0 0 0 0 0 1
NOVA2 1 0 0 0 0 0 1
NUDT2 1 0 0 0 0 0 1
PACS1 1 0 0 0 0 0 1
PACS2 1 0 0 0 0 0 1
PC 1 0 0 0 0 0 1
PCGF2 0 1 0 0 0 0 1
PDHA1 1 0 0 0 0 0 1
PHF21A 0 0 1 0 0 0 1
PHGDH 1 0 0 0 0 0 1
PHIP 0 1 0 0 0 0 1
PIGA 0 1 0 0 0 0 1
PLAA 1 0 0 0 0 0 1
PNPO 1 0 0 0 0 0 1
POLR2A 1 0 0 0 0 0 1
PPP3CA 1 0 0 0 0 0 1
PQBP1 1 0 0 0 0 0 1
PRMT7, SLC7A6OS 0 1 0 0 0 0 1
PRRT2 1 0 0 0 0 0 1
PTCHD1 0 0 1 0 0 0 1
PURA 1 0 0 0 0 0 1
RAB3GAP2 0 1 0 0 0 0 1
RAC1 0 1 0 0 0 0 1
RAPSN 1 0 0 0 0 0 1
RHOBTB2 0 1 0 0 0 0 1
RNASEH2B 1 0 0 0 0 0 1
SCN3A 0 0 0 0 1 0 1
SEMA5A 0 0 1 0 0 0 1
SET 1 0 0 0 0 0 1
SETBP1 1 0 0 0 0 0 1
SETD1A 1 0 0 0 0 0 1
SLC1A1 0 0 0 1 0 0 1
SLC35A2 0 1 0 0 0 0 1
SLC9A6 1 0 0 0 0 0 1
SLITRK6 1 0 0 0 0 0 1
SMC1A 0 0 1 0 0 0 1
SMC3 0 1 0 0 0 0 1
SMS 0 1 0 0 0 0 1
SOX11 0 1 0 0 0 0 1
STAG1 0 1 0 0 0 0 1
STAMBP 0 0 1 0 0 0 1
STEEP1 1 0 0 0 0 0 1
SZT2 0 1 0 0 0 0 1
TCF20 1 0 0 0 0 0 1
THOC2 0 0 1 0 0 0 1
TRMT1 0 1 0 0 0 0 1
TRPM3 1 0 0 0 0 0 1
TRRAP 0 1 0 0 0 0 1
TUBB2A 0 1 0 0 0 0 1
UNC80 0 1 0 0 0 0 1
UPF1 0 1 0 0 0 0 1
USH2A 1 0 0 0 0 0 1
USP9X 0 1 0 0 0 0 1
WAC 1 0 0 0 0 0 1
WDR26 0 1 0 0 0 0 1
WWOX 0 1 0 0 0 0 1
XRCC4 1 0 0 0 0 0 1
ZBTB18 1 0 0 0 0 0 1
ZBTB20 0 1 0 0 0 0 1
ZDHHC9 0 1 0 0 0 0 1
ZMYND11 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 250
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance total
Seizure 32 15 1 15 0 0 63
Intellectual disability 27 10 7 1 1 5 51
Global developmental delay 29 13 0 0 0 0 42
Severe myoclonic epilepsy in infancy 9 7 1 0 0 0 17
Landau-Kleffner syndrome 9 3 4 0 0 0 16
Intellectual disability, autosomal dominant 5 14 1 0 0 0 0 15
Seizures, benign familial neonatal, 1 11 4 0 0 0 0 15
Generalized epilepsy with febrile seizures plus, type 2 9 5 0 0 0 0 14
Myoclonic-astatic epilepsy 3 6 1 1 0 0 11
Developmental and epileptic encephalopathy, 4 8 2 0 0 0 0 10
Epilepsy, familial focal, with variable foci 1 8 1 1 0 0 0 10
Developmental and epileptic encephalopathy, 2 6 3 0 0 0 0 9
Developmental and epileptic encephalopathy, 7 5 4 0 0 0 0 9
Developmental and epileptic encephalopathy, 9 7 2 0 0 0 0 9
Alternating hemiplegia of childhood 2 3 4 1 0 0 0 8
Developmental and epileptic encephalopathy 94 1 5 2 0 0 0 8
Developmental and epileptic encephalopathy, 11 5 2 0 1 0 0 8
Developmental and epileptic encephalopathy, 14 4 3 1 0 0 0 8
Developmental and epileptic encephalopathy, 13 4 2 1 0 0 0 7
Rett syndrome 4 0 2 1 0 0 7
Epileptic encephalopathy 2 3 0 1 0 0 6
See cases 5 1 0 0 0 0 6
Autosomal dominant nocturnal frontal lobe epilepsy 5 3 1 1 0 0 0 5
Childhood onset GLUT1 deficiency syndrome 2 2 3 0 0 0 0 5
Developmental and epileptic encephalopathy, 42 3 1 0 1 0 0 5
Kleefstra syndrome 1 2 2 1 0 0 0 5
Seizures, benign familial infantile, 3 3 1 0 1 0 0 5
Developmental and epileptic encephalopathy, 27 2 0 1 1 0 0 4
Intellectual disability, X-linked 1 3 1 0 0 0 0 4
Kabuki syndrome 1 3 1 0 0 0 0 4
Neurodegeneration with brain iron accumulation 5 2 2 0 0 0 0 4
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 1 2 1 0 0 0 4
X-linked intellectual disability, Cantagrel type 4 0 0 0 0 0 4
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 3 0 0 0 0 0 3
Angelman syndrome 2 1 0 0 0 0 3
Autistic behavior 2 0 0 1 0 0 3
Clark-Baraitser syndrome 2 1 0 0 0 0 3
Coffin-Siris syndrome 1 2 1 0 0 0 0 3
Developmental and epileptic encephalopathy, 17 2 1 0 0 0 0 3
Developmental and epileptic encephalopathy, 19 2 1 0 0 0 0 3
Developmental and epileptic encephalopathy, 26 2 1 0 0 0 0 3
Developmental and epileptic encephalopathy, 54 2 1 0 0 0 0 3
Developmental and epileptic encephalopathy, 8 1 2 0 0 0 0 3
Focal-onset seizure 3 0 0 0 0 0 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 1 0 0 0 0 3
Lissencephaly due to TUBA1A mutation 1 1 1 0 0 0 3
Rett syndrome, congenital variant 1 1 0 0 1 0 3
Seizures, benign familial infantile, 2 2 1 0 0 0 0 3
Syndromic X-linked intellectual disability Claes-Jensen type 1 2 0 0 0 0 3
Acute myeloid leukemia; Sotos syndrome 1 1 0 0 0 0 2
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome 0 2 0 0 0 0 2
Autism, susceptibility to, 17 1 0 1 0 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 2 0 0 0 0 2
Chromosome 2q32-q33 deletion syndrome 1 1 0 0 0 0 2
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 1 1 0 0 0 0 2
Cornelia de Lange syndrome 5 1 0 1 0 0 0 2
Developmental and epileptic encephalopathy, 43 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 47 1 1 0 0 0 0 2
Developmental and epileptic encephalopathy, 5 0 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 67 0 1 0 0 1 0 2
Epilepsy, familial temporal lobe, 1 0 1 1 0 0 0 2
Episodic kinesigenic dyskinesia 1 2 0 0 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 1 0 0 2 0 0 0 2
Global developmental delay; Cerebellar atrophy 1 1 0 0 0 0 2
Global developmental delay; Seizure 0 2 0 0 0 0 2
Houge-Janssens syndrome 2 2 0 0 0 0 0 2
Hypotonia 1 0 1 0 0 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 2 0 0 0 0 2
Intellectual developmental disorder with seizures and language delay 2 0 0 0 0 0 2
Intellectual disability, X-linked 21 1 0 1 0 0 0 2
Intellectual disability, X-linked 49 1 1 0 0 0 0 2
Intellectual disability, autosomal dominant 1 1 1 0 0 0 0 2
Intellectual disability, autosomal dominant 8 1 1 0 0 0 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 1 0 0 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 2 0 0 0 0 2
KBG syndrome 2 0 0 0 0 0 2
Kabuki syndrome 2 1 1 0 0 0 0 2
Koolen-de Vries syndrome 2 0 0 0 0 0 2
Lamb-Shaffer syndrome 1 1 0 0 0 0 2
Microcephaly 1 1 0 0 0 0 2
Microcephaly-capillary malformation syndrome 1 0 1 0 0 0 2
Polymicrogyria 2 0 0 0 0 0 2
Pyridoxine-dependent epilepsy 0 2 0 0 0 0 2
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 0 2 0 0 0 0 2
Schizophrenia 2 0 0 0 0 0 2
Seizure; Intellectual disability 1 1 0 0 0 0 2
Sjögren-Larsson syndrome 2 0 0 0 0 0 2
Transposition of the great arteries, dextro-looped; Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 1 0 0 0 0 2
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 2 0 0 0 2
ZTTK syndrome 2 0 0 0 0 0 2
Abnormal facial shape 1 0 0 0 0 0 1
Adams-Oliver syndrome 5 1 0 0 0 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 0 0 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 0 0 1
Autistic behavior; Seizure 1 0 0 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 1 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 13 1 0 0 0 0 0 1
Baraitser-Winter syndrome 1 0 1 0 0 0 0 1
Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 0 1 0 0 0 0 1
Baraitser-winter syndrome 2 0 1 0 0 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 1 0 0 0 1
Bilateral tonic-clonic seizure 0 0 0 0 1 0 1
CHARGE association 1 0 0 0 0 0 1
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 1 0 0 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 0 0 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 0 0 1 0 0 0 1
Cerebellar atrophy, developmental delay, and seizures 0 1 0 0 0 0 1
Cerebral cavernous malformation 2 1 0 0 0 0 0 1
Childhood apraxia of speech 0 0 1 0 0 0 1
Christianson syndrome 1 0 0 0 0 0 1
Coffin-Siris syndrome 6 1 0 0 0 0 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 0 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 14 0 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 0 0 0 1
Complex febrile seizure 1 0 0 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 0 0 1
Congenital stationary night blindness 1B 1 0 0 0 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 0 0 1
Craniosynostosis syndrome; Intellectual disability 1 0 0 0 0 0 1
Creatine transporter deficiency 1 0 0 0 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 0 0 1
Dandy-Walker syndrome 1 0 0 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 0 0 1
Delayed gross motor development 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 28 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 32 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 33 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 36 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 56 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 59 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 65 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 69 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 78 1 0 0 0 0 0 1
Dicarboxylic aminoaciduria; Schizophrenia 18 0 0 0 1 0 0 1
Dysequilibrium syndrome 1 0 0 0 0 0 1
EEG with focal epileptiform discharges 0 0 0 0 1 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 0 0 1
Encephalopathy due to GLUT1 deficiency 1 0 0 0 0 0 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 1 0 0 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 1 0 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 1 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 1 0 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 1 0 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years) 0 0 1 0 0 0 1
Febrile seizures, familial, 8 0 1 0 0 0 0 1
Focal dermal hypoplasia 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 0 0 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 1 0 0 0 0 0 1
Generalized myoclonic seizure 0 1 0 0 0 0 1
Global developmental delay; Microcephaly; Bilateral multifocal epileptiform discharges 1 0 0 0 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 16 0 1 0 0 0 0 1
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 1 0 0 0 0 0 1
Hereditary spastic paraplegia 28 1 0 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant 1 0 0 0 0 0 1
Hogue-Janssens syndrome 1 1 0 0 0 0 0 1
Hurler syndrome 0 1 0 0 0 0 1
Hyperprolinemia type 2 0 1 0 0 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 0 0 1
Infantile spasms 0 1 0 0 0 0 1
Intellectual developmental disorder 62 0 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 1 0 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 0 0 1
Intellectual developmental disorder, autosomal recessive 68 0 1 0 0 0 0 1
Intellectual disability, X-linked 102 1 0 0 0 0 0 1
Intellectual disability, X-linked 107 1 0 0 0 0 0 1
Intellectual disability, X-linked 99; Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 20 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 27 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 42 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 2 1 0 0 0 0 0 1
Intellectual disability, mild 1 0 0 0 0 0 1
Lafora disease 1 0 0 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 0 0 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 1 0 0 0 0 0 1
Malan overgrowth syndrome 1 0 0 0 0 0 1
Malignant migrating partial seizures of infancy 1 0 0 0 0 0 1
Marshall-Smith syndrome; Malan overgrowth syndrome 1 0 0 0 0 0 1
Martsolf syndrome 0 1 0 0 0 0 1
Mevalonic aciduria 1 0 0 0 0 0 1
Microcephaly; Encephalopathy; Abnormal CNS myelination 0 0 0 0 1 0 1
Microcephaly; Encephalopathy; Cerebral dysmyelination 1 0 0 0 0 0 1
Micrognathia 0 1 0 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 1 0 0 0 1
Migraine, familial hemiplegic, 2 0 1 0 0 0 0 1
Moderate global developmental delay 0 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 0 0 1
Myoclonic absence seizure 0 0 0 0 1 0 1
Myoclonus 0 0 0 1 0 0 1
Neonatal hypotonia 0 1 0 0 0 0 1
Neu-Laxova syndrome 1 1 0 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 0 0 0 0 1
Neurodevelopmental disorder with infantile epileptic spasms 0 1 0 0 0 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 1 0 0 0 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 0 0 1
Paroxysmal dystonia 0 0 0 1 0 0 1
Periventricular nodular heterotopia 7 0 0 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 0 0 1
Phelan-McDermid syndrome; Schizophrenia 15 1 0 0 0 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 1 0 0 0 0 0 1
Progressive myoclonic epilepsy type 7 0 1 0 0 0 0 1
Pyridoxal phosphate-responsive seizures 1 0 0 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 0 1
Renpenning syndrome 1 0 0 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 0 0 0 1
SLC35A2-congenital disorder of glycosylation 0 1 0 0 0 0 1
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 1 0 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 0 1
Seizure; Neurodevelopmental delay 0 0 0 1 0 0 1
Seizures, benign familial infantile, 5 1 0 0 0 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 1 0 0 0 0 1
Seizures, benign familial neonatal, 2 0 1 0 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 0 0 1
Severe global developmental delay 1 0 0 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly 0 0 1 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 1 0 0 0 0 0 1
Short stature, microcephaly, and endocrine dysfunction 1 0 0 0 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 0 1 0 0 0 1
Skraban-Deardorff syndrome 0 1 0 0 0 0 1
Smith-Magenis syndrome 0 1 0 0 0 0 1
Snijders Blok-Campeau syndrome 1 0 0 0 0 0 1
Specific learning disability; Bilateral tonic-clonic seizure 1 0 0 0 0 0 1
Spondyloepiphyseal dysplasia 1 0 0 0 0 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 0 0 1
Syndromic X-linked intellectual disability Najm type; FG syndrome 4 0 1 0 0 0 0 1
Syndromic X-linked intellectual disability Raymond type 0 1 0 0 0 0 1
Usher syndrome type 2A 1 0 0 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 0 0 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 0 1 0 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 0 0 0 1 0 0 1

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