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Metadata
DOID DOID:0080419
Name early infantile epileptic encephalopathy 50
Definition An early infantile 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
Synonyms

Carbohydrate deficient glycoprotein syndrome type Iz [EXACT]

CDG syndrome type Iz [EXACT]

CDG-Iz [EXACT]

Congenital disorder of glycosylation type 1z [EXACT]

Xrefs

OMIM:616457

ORDO:448010

Relationships

is_a early infantile epileptic encephalopathy

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