developmental and epileptic encephalopathy 50

Summary

DOID:0080419 - developmental and epileptic encephalopathy 50

Disease Ontology 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.

Synonyms: Carbohydrate deficient glycoprotein syndrome type Iz, CDG-Iz, CDG syndrome type Iz, Congenital disorder of glycosylation type 1z, DEE50, early infantile epileptic encephalopathy 50

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cad

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), developmental and epileptic encephalopathy (is_a)