Orphanet: DPM1 CDG

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Disease definition

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.


Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type Ie
    • CDG-Ie
    • CDG1E
    • Carbohydrate deficient glycoprotein syndrome type Ie
    • Congenital disorder of glycosylation type 1e
    • Congenital disorder of glycosylation type Ie
    • Dol-P-mannosyltransferase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 608799
  • UMLS: C1837396
  • MeSH: -
  • GARD: 9831
  • MedDRA: -

Detailed information


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