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Metadata
ID DOID:0080419
Name developmental and 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
Xrefs

GARD:13621

OMIM:616457

ORDO:448010

Synonyms

Carbohydrate deficient glycoprotein syndrome type Iz [EXACT]

CDG syndrome type Iz [EXACT]

CDG-Iz [EXACT]

Congenital disorder of glycosylation type 1z [EXACT]

DEE50 [EXACT]

early infantile epileptic encephalopathy 50 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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