| Metadata | |
|---|---|
| ID | DOID:0112212 |
| Name | developmental and 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. https://pubmed.ncbi.nlm.nih.gov/31031012/ |
| Xrefs | |
| Synonyms |
DECAM [EXACT] DEE76 [EXACT] developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination [EXACT] early infantile epileptic encephalopathy 76 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |