Conditions / Genetic
non-syndromic X-linked intellectual disability 58
info ยท Genetic
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4.
Signs and symptoms
- Narrow face
- Small nail
- Delayed speech and language development
- Long face
- Nystagmus
- Dental malocclusion
- Short philtrum
- Intellectual disability
- Myopia
Also known as: MRX58; X-linked mental retardation 58