Conditions / Genetic
cardiofaciocutaneous syndrome 4
info · Genetic
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.
Signs and symptoms
- Epicanthus
- Strabismus
- Heat intolerance
- Hypotonia
- Sparse hair
- Thin corpus callosum
- Cataract
- Nystagmus
- Abnormal aortic valve morphology
- Hyperhidrosis
Also known as: CFC4