Genes associated with “infantile spasms”
Some sources returned errors (2)
omim: Error: OMIM search: 429
omimClinSyn: Error: OMIM CS: 429
How are genes scored? (0–100 composite)
Strong Candidates
18 genestuberous sclerosis 2
potassium voltage-gated channel subfamily Q member 2
phospholipase C beta 1
developmental and epileptic encephalopathy, 31B
TBC1 domain family member 24
WW domain containing oxidoreductase
gamma-aminobutyric acid type A receptor subunit alpha5
Consider
78 genesdevelopmental and epileptic encephalopathy 111
tuberous sclerosis 1
gamma-aminobutyric acid type A receptor subunit gamma3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
multiple congenital anomalies-hypotonia-seizures syndrome 2
polynucleotide kinase 3'-phosphatase
phosphatase and actin regulator 1
neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
microcephaly-capillary malformation syndrome
solute carrier family 2 member 1
canopy FGF signaling regulator 3
developmental and epileptic encephalopathy 112
retinoschisin 1
GTP binding elongation factor GUF1
developmental and epileptic encephalopathy, 74
WD repeat domain 45
multiple mitochondrial dysfunctions syndrome 7
salt inducible kinase 1
developmental and epileptic encephalopathy, 44
developmental and epileptic encephalopathy 106
4-aminobutyrate aminotransferase
phosphofurin acidic cluster sorting protein 2
developmental and epileptic encephalopathy, 36
neurotrophic receptor tyrosine kinase 2
gamma-aminobutyric acid type A receptor subunit alpha1
gamma-aminobutyric acid type A receptor subunit beta2
potassium voltage-gated channel subfamily C member 2
potassium voltage-gated channel subfamily A member 2
synaptojanin 1
Possible
129 genes — click to expand
epilepsy, early-onset, 3, with or without developmental delay
gamma-aminobutyric acid type A receptor subunit delta
neurodevelopmental disorder with involuntary movements
focal segmental glomerulosclerosis and neurodevelopmental syndrome
neurodevelopmental disorder with hypotonia and seizures
neurodevelopmental disorder with or without autism or seizures
gamma-aminobutyric acid type A receptor subunit beta1
developmental and epileptic encephalopathy, 85, with or without midline brain defects
glucosamine-6-phosphate deaminase 2
casein kinase 1 epsilon
developmental and epileptic encephalopathy, 72
gamma-aminobutyric acid type A receptor subunit epsilon
gamma-aminobutyric acid type A receptor subunit alpha2
gamma-aminobutyric acid type A receptor subunit alpha3
gamma-aminobutyric acid type A receptor subunit alpha4
gamma-aminobutyric acid type A receptor subunit alpha6
gamma-aminobutyric acid type A receptor subunit gamma1
gamma-aminobutyric acid type A receptor subunit pi
gamma-aminobutyric acid type A receptor subunit theta
melanocortin 2 receptor
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
intellectual disability, autosomal dominant 42
developmental and epileptic encephalopathy, 26
DPAGT1-congenital disorder of glycosylation
xeroderma pigmentosum group G
developmental and epileptic encephalopathy, 81
developmental and epileptic encephalopathy, 59
methylmalonic acidemia with homocystinuria, type cblX
D-2-hydroxyglutaric aciduria 1
intellectual disability, autosomal dominant 38
complex cortical dysplasia with other brain malformations 5
intellectual developmental disorder with severe speech and ambulation defects
developmental and epileptic encephalopathy 93
developmental and epileptic encephalopathy, 23
complex cortical dysplasia with other brain malformations 4
intellectual disability, autosomal recessive 61
multiple mitochondrial dysfunctions syndrome 9b
complex cortical dysplasia with other brain malformations 7
ALG2-congenital disorder of glycosylation
NAD(P)HX dehydratase deficiency
periventricular nodular heterotopia 7
X-linked intellectual disability, Cantagrel type
cortical dysplasia-focal epilepsy syndrome
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
Snijders Blok-Campeau syndrome
mitochondrial DNA depletion syndrome 13
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.