developmental and epileptic encephalopathy 44 (DOID:0080424)
Alliance: disease page
Synonyms: DEE44; early infantile epileptic encephalopathy 44
Alt IDs: OMIM:617132
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.