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Metadata
ID DOID:0080418
Name developmental and epileptic encephalopathy 54
Definition A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
https://www.ncbi.nlm.nih.gov/pubmed/27652284
Xrefs

OMIM:617391

Synonyms

DEE54 [EXACT]

early infantile epileptic encephalopathy 54 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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