OBO ID: DOID:0112212
Term Name: developmental and epileptic encephalopathy 76 Search Ontology:
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 ACTL6B on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/31031012/
References:
Ontology: Human Disease   (DOID:0112212)
OTHER developmental and epileptic encephalopathy 76 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACTL6B Developmental and epileptic encephalopathy 76 618468
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None