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 <i>GALT1</i> 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.