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
- 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.