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

• GARD:13621
• OMIM:616457
• ORDO:448010

Ontology

Human Disease   ( DOID:0080419 )