Orphanet: DPM1 CDG
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DPM1-CDG

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.

ORPHA:79322

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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