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SLC35A1-CDG

Disease definition

SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

ORPHA:238459

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIf
    • CDG-IIf
    • CDG2F
    • CMP-sialic acid transporter deficiency
    • Carbohydrate deficient glycoprotein syndrome type IIf
    • Congenital disorder of glycosylation type 2f
    • Congenital disorder of glycosylation type IIf
  • Prevalence: <1 / 1 000 000
  • Inheritance: No data available 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 603585
  • UMLS: C1970344
  • MeSH: -
  • GARD: 12409
  • MedDRA: -

Detailed information

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