Conditions / Genetic
congenital disorder of glycosylation type IIn
info · Genetic
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.
Signs and symptoms
- Poor head control
- Cerebellar atrophy
- Hypotonia
- Delayed ability to sit
- Intellectual disability
- Cerebellar vermis atrophy
- Strabismus
- Inability to walk
- Osteopenia
- Profound intellectual disability
Also known as: CDG IIn; CDG syndrome type IIn; CDG2N; CDGIIn; Carbohydrate deficient glycoprotein syndrome type IIn