Conditions / Genetic
Noonan syndrome 9
info · Genetic · ICD-10: Q87.1
A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.
Signs and symptoms
- Short neck
- Prolonged prothrombin time
- Webbed neck
- Cryptorchidism
- Curly hair
- Sparse eyebrow
- Keratosis pilaris
- Downslanted palpebral fissures
- Prominent corneal nerve fibers
- Short stature
Also known as: NS9