Clinical Characteristics

The main clinical features of the condition associated with SCAPER mutations are:

  • Progressive deterioration of vision, due to retinal degeneration (Retinitis Pigmentosa (RP))
  • Intellectual disability (mental retardation)
  • Attention-deficit/hyperactivity disorder
  • Obesity
  • Short stature
  • Brachydactyly (shortness of the fingers and toes)
  • Genu valgum or genu varum (bowing of the knee inwards or outwards)

Not all individuals with a mutation in the SCAPER gene have all these features, and milder phenotypes, including RP with intellectual disability, isolated RP and isolated intellectual disability have been described.