Metadata | |
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ID | DOID:0070394 |
Name | developmental and epileptic encephalopathy 108 |
Definition | A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/34185323/, https://pubmed.ncbi.nlm.nih.gov/35095415/ |
Xrefs | |
Synonyms |
DEE108 [EXACT] early infantile epileptic encephalopathy 108 [EXACT] |
Parent Relationships |