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DPM3-CDG

Disease definition

DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).

ORPHA:263494

  • Synonym(s):
    • CDG syndrome type Io
    • CDG-Io
    • CDG1O
    • Carbohydrate deficient glycoprotein syndrome type Io
    • Congenital disorder of glycosylation type 1o
    • Congenital disorder of glycosylation type Io
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.8
  • OMIM: 612937
  • UMLS: C2752007
  • MeSH: -
  • GARD: 12395
  • MedDRA: -

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