Noonan syndrome 8

A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22.

Signs and symptoms

• Hypertrophic cardiomyopathy
• Hypertelorism
• Low-set ears
• Relative macrocephaly
• Atrial septal defect
• Webbed neck
• Epicanthus
• Downslanted palpebral fissures
• Cryptorchidism
• Ventricular septal defect

Also known as: NS8