developmental and epileptic encephalopathy 76 (DOID:0112212)
Alliance: disease page
Synonyms: DECAM; DEE76; developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination; early infantile epileptic encephalopathy 76
Alt IDs: OMIM:618468
Definition: A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1.