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DDOST-CDG

Disease definition

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

ORPHA:300536

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type Ir
    • CDG-Ir
    • CDG1R
    • Carbohydrate deficient glycoprotein syndrome type Ir
    • Congenital disorder of glycosylation type 1r
    • Congenital disorder of glycosylation type Ir
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 614507
  • UMLS: -
  • MeSH: -
  • GARD: 12398
  • MedDRA: -

Detailed information

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