Metadata | |
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ID | DOID:0070385 |
Name | developmental and epileptic encephalopathy 99 |
Definition | A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/33880529/ |
Xrefs | |
Synonyms |
DEE99 [EXACT] early infantile epileptic encephalopathy 99 [EXACT] |
Parent Relationships |