Conditions / Genetic
cardiofaciocutaneous syndrome 3
info · Genetic
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.
Signs and symptoms
- Curly hair
- Heat intolerance
- Hypotonia
- Pectus excavatum
- Hyperhidrosis
- Hyperkeratosis
- Scoliosis
- Wide mouth
- Short stature
- Global developmental delay
Also known as: CFC3