Metadata | |
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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 | |
Synonyms |
DEE19 [EXACT] early infantile epileptic encephalopathy 19 [EXACT] |
Parent Relationships |