FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term developmental and epileptic encephalopathy 50 ID (Ontology) DOID:0080419 (Human Disease)
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.
Also Known As "Carbohydrate deficient glycoprotein syndrome type Iz" ; "CDG syndrome type Iz" ; "CDG-Iz" (for all, see Synonyms field below)
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 Genes
 developmental and epileptic encephalopathy 50       1
 for disease ribbon | developmental and epileptic encephalopathy 50       1
 model of | developmental and epileptic encephalopathy 50       1
Spanning Tree (Parents/Children)
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 50  1 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "Carbohydrate deficient glycoprotein syndrome type Iz" EXACT
    "CDG syndrome type Iz" EXACT
    "CDG-Iz" EXACT OMO:0003012
    "Congenital disorder of glycosylation type 1z" EXACT
    "DEE50" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 50" EXACT
Secondary IDs
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GARD:13621
MIM:616457
ORDO:448010