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B4GALT1-CDG

What is B4GALT1-CDG?

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

Other condition names

  • Beta-1,4-galactosyltransferase deficiency
  • CDG syndrome type IId
  • CDG-IId
  • CDG2D
  • Carbohydrate deficient glycoprotein syndrome type IId
  • Congenital disorder of glycosylation type 2d
  • Congenital disorder of glycosylation type IId

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

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