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genetic developmental and epileptic encephalopathy

MONDO:0100062

Also known as: developmental and epileptic encephalopathy, hereditary developmental and epileptic encephalopathy

MONDO:
MONDO:0100062
Rare disease112 associated genes

Description

A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.

Associated genes

+102 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.