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Metadata
ID	DOID:0080418
Name	developmental and epileptic encephalopathy 54
Definition	A developmental and epileptic encephalopathy characterized 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