STT3A-CDG

What is STT3A-CDG?

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 <i>STT3A</i> (11q23.3).

Other condition names

  • CDG syndrome type Iw
  • CDG-Iw
  • CDG1W
  • Congenital disorder of glycosylation type 1w
  • Congenital disorder of glycosylation type Iw

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.