Metadata | |
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ID | DOID:0112205 |
Name | developmental and epileptic encephalopathy 69 |
Definition | A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/30343943/ |
Xrefs | |
Synonyms |
DEE69 [EXACT] early infantile epileptic encephalopathy 69 [EXACT] |
Parent Relationships |