OBO ID: DOID:0080427
Term Name: developmental and epileptic encephalopathy 40 Search Ontology:
Synonyms:
  • DEE40
  • early infantile epileptic encephalopathy 40
Definition: A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. https://www.ncbi.nlm.nih.gov/pubmed/26486472
References:
Ontology: Human Disease   (DOID:0080427)
OTHER developmental and epileptic encephalopathy 40 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GUF1 ?Developmental and epileptic encephalopathy 40 617065
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None