Noonan syndrome 2

info · Genetic · ICD-10: Q87.1

A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11.

Signs and symptoms

Hyperpigmentation of the skin
Posteriorly rotated ears
Melanocytic nevus
Hypermelanotic macule
Pulmonary artery stenosis
Mitral valve prolapse
Atrial septal defect
Low-set ears
Redundant neck skin
Shield chest

Also known as: NS2