Preferred Label : Phosphomannomutase 2 deficiency;
ICD-11 definition : Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of
CDG syndrome and is characterized by highly variable clinical manifestations that
may include feeding problems, vomiting, and diarrhea with failure to thrive in infants,
and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor
retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and
retinitis pigmentosa in late infancy, childhood or adulthood.;
ICD-11 synonym : Carbohydrate deficient glycoprotein syndrome type 1A; Congenital disorder of glycosylation type 1A; CDG - [Congenital disorder of glycosylation] syndrome type 1A; CDG syndrome type 1A;
Origin ID : 491821390;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of
CDG syndrome and is characterized by highly variable clinical manifestations that
may include feeding problems, vomiting, and diarrhea with failure to thrive in infants,
and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor
retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and
retinitis pigmentosa in late infancy, childhood or adulthood.
