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Metadata
ID DOID:0080431
Name developmental and epileptic encephalopathy 19
Definition A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.
https://www.ncbi.nlm.nih.gov/pubmed/24623842
Xrefs

MIM:615744

Synonyms

DEE19 [EXACT]

early infantile epileptic encephalopathy 19 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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