undetermined early-onset epileptic encephalopathy
MONDO:0018614Also known as: non-specific early-onset epileptic encephalopathy, undetermined EOEE, undetermined early-onset epileptic encephalopathy
- MONDO:
- MONDO:0018614
- Orphanet:
- 442835 ↗
Rare disease47 associated genes
Description
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
Associated genes
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