Term Name: developmental and epileptic encephalopathy 76
Synonyms: DECAM, DEE76, developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination, early infantile epileptic encephalopathy 76
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.
Ontology: Human Disease [DOID:0112212]   ( DOID:0112212 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy