Conditions / Genetic
congenital disorder of glycosylation type IIf
info · Genetic
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.
Signs and symptoms
- Encephalopathy
- Poor speech
- Aminoaciduria
- Seizure
- Ataxia
- Generalized hypotonia
- Macrothrombocytopenia
- Nystagmus
- Recurrent bacterial infections
- Clinodactyly
Also known as: CDG IIf; CDG2F; CDGIIf; CMP-sialic acid transporter deficiency; Carbohydrate deficient glycoprotein syndrome type IIf