Preferred Label : Glucosidase 1 deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIb is characterised
by hepatomegaly, hypoventilation, seizures and feeding problems. To date, it has been
reported in only one child who died within the first three months of life. The syndrome
is associated with a deficiency in the endoplasmic reticulum enzyme, glucosidase I.;
ICD-11 synonym : Carbohydrate deficient glycoprotein syndrome type 2B; Congenital disorder of glycosylation type 2B; CDG - [Congenital disorder of glycosylation] syndrome type 2B; CDG syndrome type 2B;
Origin ID : 959745817;
Currated CISMeF NLP mapping
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIb is characterised
by hepatomegaly, hypoventilation, seizures and feeding problems. To date, it has been
reported in only one child who died within the first three months of life. The syndrome
is associated with a deficiency in the endoplasmic reticulum enzyme, glucosidase I.
