Conditions / Genetic

Noonan syndrome 6

info · Genetic · ICD-10: Q87.1

A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.

Signs and symptoms

Generalized hypotonia
Hypertelorism
Bilateral ptosis
Pulmonic stenosis
Posteriorly rotated ears
Downslanted palpebral fissures
Low-set ears
Low posterior hairline
Multiple lentigines
Short neck

Also known as: NS6