Conditions / Syndrome
Coffin-Siris syndrome 2
info · Syndrome
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.
Signs and symptoms
- Delayed eruption of teeth
- Strabismus
- Coarse facial features
- Thick vermilion border
- Hyperactivity
- Intellectual disability
- Hirsutism
- Feeding difficulties
- Poor suck
- Absent fifth toenail
Also known as: CSS2; MRD14; autosomal dominant mental retardation 14