Conditions / Genetic
congenital disorder of glycosylation type IIl
info · Genetic
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.
Signs and symptoms
- Global developmental delay
- Hypohidrosis
- Recurrent infections
- Elevated circulating hepatic transaminase concentration
- Thrombocytopenia
- Type II transferrin isoform profile
- Microcephaly
- Splenomegaly
- Atrial septal defect
- Growth delay
Also known as: CDG IIl; CDG syndrome type IIL; CDG2L; CDGIIl; COG6-CGD