OBO ID: DOID:0080432
Term Name: developmental and epileptic encephalopathy 60 Search Ontology:
Synonyms:
  • DEE60
  • early infantile epileptic encephalopathy 60
Definition: A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. https://www.ncbi.nlm.nih.gov/pubmed/29394991
References:
Ontology: Human Disease   (DOID:0080432)
OTHER developmental and epileptic encephalopathy 60 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNPY3 Developmental and epileptic encephalopathy 60 617929
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None