Conditions / Genetic

non-syndromic X-linked intellectual disability 107

info ยท Genetic

A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.

Signs and symptoms

  • Global developmental delay
  • Intellectual disability
  • Long face
  • Upslanted palpebral fissure
  • Macrotia
  • Mandibular prognathia
  • Narrow face
  • Smooth philtrum
  • Autistic behavior
  • Broad forehead

Also known as: MRX107; X-linked mental retardation 107