Clinical Characteristics

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

  • Retinitis Pigmentosa
  • Intellectual disability
  • Attention-deficit/hyperactivity disorder
  • Obesity
  • Short stature
  • Brachydactyly
  • Genu valgum or genu varum

Individuals presenting with the full phenotypic spectrum meet the diagnostic criteria for Bardet-Biedl Syndrome. However, not all individuals with a mutation in the SCAPER gene have these features, and milder phenotypes, including RP with intellectual disability, non-syndromic RP and non-syndromic intellectual disability have been described.