Clinical Characteristics

What characteristics do individuals with a change in the DHX30 gene have in common?

Individuals with a mutation in the DHX30 gene have these characteristics:

  • Learning disabilities/intellectual disability
  • Minimal or absent speech development
  • Muscular weakness
  • Unsteady/uncoordinated walking or inability to walk
  • Feeding difficulties
  • Sleep disturbances
  • Strabismus / crossed eyes
  • Joint hypermobility