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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 GABRA5 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

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