Conditions / Syndrome
Coffin-Siris syndrome 3
info · Syndrome
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
Signs and symptoms
- Short stature
- Hypotonia
- Abnormal corpus callosum morphology
- Coarse facial features
- Thick vermilion border
- High palate
- Delayed eruption of permanent teeth
- Wide mouth
- Thick eyebrow
- Delayed skeletal maturation
Also known as: CSS3; MRD15; autosomal dominant mental retardation 15