Term Name: | developmental and epileptic encephalopathy 76 |
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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 ) |