Preferred Label : Beta-1,4-galactosyltransferase deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IId is 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.;
ICD-11 synonym : Congenital disorder of glycosylation type 2D; CDG syndrome type 2D; Carbohydrate deficient glycoprotein syndrome type 2D; CDG - [Congenital disorder of glycosylation] syndrome type 2D;
Origin ID : 2127970541;
Currated CISMeF NLP mapping
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IId is 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.
