Conditions / Genetic
non-syndromic X-linked intellectual disability 19
info · Genetic
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12.
Signs and symptoms
- Mild intellectual disability
- Everted lower lip vermilion
- Thick lower lip vermilion
- Intellectual disability
- Scoliosis
- Prominent forehead
- Broad nasal tip
- Delayed speech and language development
- Hypotonia
- Kyphoscoliosis
Also known as: MRX19; X-linked mental retardation 19