Preferred Label : Mannose-P-dolichol utilisation defect 1;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised
by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
It has been described in four children. The syndrome is caused by mutations in the
MPDU1 gene, localised to the p13.1-p12 region of chromosome 17.;
ICD-11 synonym : Congenital disorder of glycosylation type 1F; Lec35 deficiency; CDG syndrome type 1F; Carbohydrate deficient glycoprotein syndrome type 1F; CDG - [Congenital disorder of glycosylation] syndrome type 1F;
Origin ID : 2086182172;
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 If is characterised
by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
It has been described in four children. The syndrome is caused by mutations in the
MPDU1 gene, localised to the p13.1-p12 region of chromosome 17.
