Conditions / Genetic

non-syndromic X-linked intellectual disability ARX-related

info ยท Genetic

A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.

Signs and symptoms

  • Severe intellectual disability
  • Dysplastic testis
  • Intellectual disability
  • Pes planus
  • Urinary incontinence
  • Babinski sign
  • Hypotonia
  • Sensorineural hearing impairment
  • Drooling
  • Seizure

Also known as: ARX-related intellectual disability; MRXARX; X-linked mental retardation 29; X-linked mental retardation 29 and others; X-linked mental retardation 32