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Metadata
ID DOID:0112210
Name developmental and epileptic encephalopathy 74
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34.
https://pubmed.ncbi.nlm.nih.gov/27864268/
Xrefs

OMIM:618396

Synonyms

DEE74 [EXACT]

early infantile epileptic encephalopathy 74 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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