UBA5 and developmental and epileptic encephalopathy, 44: Early infantile epileptic encephalopathy-44 (EEIE44) (MIM: 617132) is an autosomal recessive condition resulting from biallelic UBA5 variants that is characterized by early-onset encephalopathy with or without seizures, as well as abnormal tone, movement abnormalities, severe global developmental delay, and intellectual disability.