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