Conditions / Genetic

Noonan syndrome 10

info · Genetic · ICD-10: Q87.1

A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.

Signs and symptoms

  • Prominent corneal nerve fibers
  • Prolonged partial thromboplastin time
  • Low-set ears
  • Hypertelorism
  • Short stature
  • Ptosis
  • Downslanted palpebral fissures
  • Epicanthus
  • Hyperpigmentation of the skin
  • Hypertrophic cardiomyopathy

Also known as: NS10