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undetermined early-onset epileptic encephalopathy

MONDO:0018614

Also 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

+37 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.