Search Ontology:
Human Disease

developmental and epileptic encephalopathy 50

Term ID
DOID:0080419
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models