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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 the GABRG2 gene on chromosome 5q34. https://pubmed.ncbi.nlm.nih.gov/27864268/
Xrefs	MIM:618396
Synonyms	DEE74 [EXACT] early infantile epileptic encephalopathy 74 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease