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