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Metadata
ID	DOID:0112215
Name	developmental and epileptic encephalopathy 79
Definition	A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. https://pubmed.ncbi.nlm.nih.gov/29961870/, https://pubmed.ncbi.nlm.nih.gov/31056671/
Xrefs	OMIM:618559
Synonyms	DEE79 [EXACT] early infantile epileptic encephalopathy 79 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease