developmental and epileptic encephalopathy 76

Term ID

DOID:0112212

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. https://pubmed.ncbi.nlm.nih.gov/31031012/

References

• OMIM:618468

Ontology

Human Disease   ( DOID:0112212 )