The main clinical features of the condition associated with SCAPER mutations are:
- Retinitis Pigmentosa
- Intellectual disability
- Attention-deficit/hyperactivity disorder
- Short stature
- 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.