Conditions / Genetic

non-syndromic X-linked intellectual disability 41

info ยท Genetic

A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.

Signs and symptoms

  • Intellectual disability
  • Severe intellectual disability
  • Global developmental delay
  • Specific learning disability
  • Mild intellectual disability
  • Axial hypotonia
  • Generalized non-motor (absence) seizure

Also known as: MRX41; MRX48; X-linked mental retardation 41; X-linked mental retardation 48