monogenic epilepsy
MONDO:0015653Mondo
Findings
No curated finding names monogenic epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Where it sits
- A kind of
- Narrower terms (18)
- autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
- developmental and epileptic encephalopathy, 2
- developmental and epileptic encephalopathy, 23
- developmental and epileptic encephalopathy, 73
- epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
- familial infantile myoclonic epilepsy
- focal epilepsy-intellectual disability-cerebro-cerebellar malformation
- infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
- intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- Mowat-Wilson syndrome
- neonatal-onset encephalopathy with rigidity and seizures
- neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant
- polyhydramnios, megalencephaly, and symptomatic epilepsy
- severe neonatal-onset encephalopathy with microcephaly
- spastic paraplegia-severe developmental delay-epilepsy syndrome
- X-linked intellectual disability-epilepsy syndrome
Other names
1 name
Resolves to: monogenic epilepsy
- Also called
- monogenic disease with epilepsy