Conditions / Genetic
congenital disorder of glycosylation type IIa
info · Genetic
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
Signs and symptoms
- Type II transferrin isoform profile
- Macrotia
- Severe intellectual disability
- Failure to thrive
- Severe global developmental delay
- Motor stereotypy
- Macrodontia
- Seizure
- Convex nasal ridge
- Long philtrum
Also known as: Alkuraya syndrome; CDG IIa; CDG2A; CDGIIa; CDGS2