developmental and epileptic encephalopathy 85 (DOID:0070380)
Alliance: disease page
Synonyms: DEE85; early infantile epileptic encephalopathy 85
Alt IDs: OMIM:301044
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.