Conditions / Genetic

Noonan syndrome 7

info · Genetic · ICD-10: Q87.1

A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.

Signs and symptoms

Short stature
Hypertelorism
Macrocephaly
Intellectual disability
Scoliosis
Growth delay
Generalized hypotonia
Prominent forehead
Thickened helices
Poor suck

Also known as: NS7