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STT3A-CDG

Disease definition

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

ORPHA:370921

  • Synonym(s):
    • CDG syndrome type Iw
    • CDG-Iw
    • CDG1W
    • Congenital disorder of glycosylation type 1w
    • Congenital disorder of glycosylation type Iw
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 615596
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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