OBO ID: DOID:0080419
Term Name: developmental and epileptic encephalopathy 50 Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type Iz
  • CDG syndrome type Iz
  • CDG-Iz
  • Congenital disorder of glycosylation type 1z
  • DEE50
  • early infantile epileptic encephalopathy 50
Definition: A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/28007989
References:
Ontology: Human Disease   (DOID:0080419)
OTHER developmental and epileptic encephalopathy 50 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CAD Developmental and epileptic encephalopathy 50 616457
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None