non-syndromic X-linked intellectual disability 30

info · Genetic

A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.

Signs and symptoms

Upslanted palpebral fissure
Prominent fingertip pads
Anteverted nares
Hypotonia
Short nose
Flat face
Severe intellectual disability
Thin upper lip vermilion
High palate
Intellectual disability

Also known as: MRX30; MRX47; X-linked mental retardation 30; X-linked mental retardation 30/47; X-linked mental retardation 47