Conditions / Genetic
congenital disorder of glycosylation type IIc
info · Genetic · ICD-10: D71.1
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
Signs and symptoms
- Prominent fingertip pads
- Short foot
- Brachydactyly
- Short stature
- Coarse facial features
- Severe intellectual disability
- Bulbous nose
- Delayed speech and language development
- Global developmental delay
- Autistic behavior
Also known as: CDG IIc; CDG2C; CDGIIc; Rambam-Hasharon syndrome