Preferred Label : Mannosyltransferase 7-9 deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IL is characterised
by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described
in two girls. The syndrome is associated with mutations in the ALG9 gene (localised
to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum
enzyme alpha-1,2-mannosyl transferase.;
ICD-11 synonym : Carbohydrate deficient glycoprotein syndrome type 1L; CDG - [Congenital disorder of glycosylation] syndrome type 1L; CDG syndrome type 1L; Congenital disorder of glycosylation type 1L; Dol-P-Man: Man6 and Man8-GlcNAc2-P-P-Dol mannosyltransferase deficiency;
Origin ID : 2996593;
Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IL is characterised
by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described
in two girls. The syndrome is associated with mutations in the ALG9 gene (localised
to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum
enzyme alpha-1,2-mannosyl transferase.
