Preferred Label : Mannosyltransferase 6 deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Id is characterised
by severe psychomotor delay, seizures, hypotonia, facial dysmorphism, microcephaly
and ocular anomalies. It has been described in five children. The syndrome is caused
by mutations in the ALG3 gene (localised to the q27 region of chromosome 3) leading
to a deficiency of one of the endoplasmic reticulum mannosyltransferases (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl
mannosyltransferase).;
ICD-11 synonym : Congenital disorder of glycosylation type 1D; Carbohydrate deficient glycoprotein syndrome type 1D; CDG - [Congenital disorder of glycosylation] syndrome type 1D; Dol-P-Man: Man5-GlcNAc2-P-P-Dol mannosyltransferase deficiency; CDG syndrome type 1D;
Origin ID : 1699521762;
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 Id is characterised
by severe psychomotor delay, seizures, hypotonia, facial dysmorphism, microcephaly
and ocular anomalies. It has been described in five children. The syndrome is caused
by mutations in the ALG3 gene (localised to the q27 region of chromosome 3) leading
to a deficiency of one of the endoplasmic reticulum mannosyltransferases (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl
mannosyltransferase).
