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