The clinical features associated with mutations in the RUSC2 gene are:
- Floppy as newborn and small infant
- Convulsions in early infancy especially jerks and Salaam attacks
- Delayed walking
- Delayed speech (lack of verbal communication)
- Behavioural problems
- Unsteady gait
- Dependent in all activities of daily livings
- Small head
- Scoliosis
- Abnormal MRI-Brain with corpus colossal changes (the fibres connecting the two hemispheres)