OBO ID: DOID:0080446
Term Name: developmental and epileptic encephalopathy 66 Search Ontology:
Synonyms:
  • DEE66
  • early infantile epileptic encephalopathy 66
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/29656858
References:
Ontology: Human Disease   ( DOID:0080446 )
OTHER developmental and epileptic encephalopathy 66 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PACS2 Developmental and epileptic encephalopathy 66 618067
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None