early infantile epileptic encephalopathy 76DECAMdevelopmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelinationDEE76
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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 ACTL6B on chromosome 7q22.1.