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Metadata
ID	DOID:0070380
Name	developmental and epileptic encephalopathy 85
Definition	A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. https://pubmed.ncbi.nlm.nih.gov/28166369/, https://pubmed.ncbi.nlm.nih.gov/31334757/
Xrefs	MIM:301044
Synonyms	DEE85 [EXACT] early infantile epileptic encephalopathy 85 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a X-linked dominant disease