Preferred Label : DPM3 congenital disorder of glycosylation;
ICD-11 definition : Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of
CDG syndrome characterized clinically in the single reported case by muscle weakness,
waddling gait, and dilated cardiomyopathy.;
ICD-11 synonym : CDG syndrome type 1O; Carbohydrate deficient glycoprotein syndrome type 1O; Congenital disorder of glycosylation type 1O; CDG - [Congenital disorder of glycosylation] syndrome type 1O;
Origin ID : 1389256016;
Currated CISMeF NLP mapping
Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of
CDG syndrome characterized clinically in the single reported case by muscle weakness,
waddling gait, and dilated cardiomyopathy.