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Metadata
ID DOID:0080430
Name developmental and epileptic encephalopathy 65
Definition A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
https://www.ncbi.nlm.nih.gov/pubmed/29534297
Xrefs

OMIM:618008

Synonyms

DEE65 [EXACT]

early infantile epileptic encephalopathy 65 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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