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