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Metadata
ID DOID:0080291
Name developmental and epileptic encephalopathy 59
Definition A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
https://www.ncbi.nlm.nih.gov/pubmed/25262651
Xrefs

OMIM:617904

Synonyms

DEE59 [EXACT]

early infantile epileptic encephalopathy 59 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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