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Metadata
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

MIM:619561

Synonyms

DEE97 [EXACT]

early infantile epileptic encephalopathy 97 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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