Metadata | |
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ID | DOID:0070383 |
Name | developmental and epileptic encephalopathy 97 |
Definition | A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. https://pubmed.ncbi.nlm.nih.gov/33131106/ |
Xrefs | |
Synonyms |
DEE97 [EXACT] early infantile epileptic encephalopathy 97 [EXACT] |
Parent Relationships |