Preferred Label : N-acetylglucosaminyltransferase deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIa is characterized
by severe psychomotor delay, postnatal growth retardation, facial dysmorphology and
bleeding tendency. It has been described in four children. The syndrome is associated
with mutations in the MGAT2 gene (localized to the q21 region of chromosome 14) leading
to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T
II).;
ICD-11 synonym : Carbohydrate deficient glycoprotein syndrome type 2A; Congenital disorder of glycosylation type 2A; CDG - [Congenital disorder of glycosylation] syndrome type 2A; CDG syndrome type 2A;
Origin ID : 650208613;
Automatic exact mappings (from CISMeF team)
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIa is characterized
by severe psychomotor delay, postnatal growth retardation, facial dysmorphology and
bleeding tendency. It has been described in four children. The syndrome is associated
with mutations in the MGAT2 gene (localized to the q21 region of chromosome 14) leading
to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T
II).
