We believe that mutations in the gene deoxyhypusine synthase (DHPS) is responsible for / related to:
- Neurodevelopmental / Cognitive Delays
- Epilepsy / Seizure Disorder (with no other underlying genetic cause)
- Speech and Language Delays
- Neuromuscular Delays: Hypermobility, Hypertonia, Spasticity
- Growth issues / Failure to Thrive
- Immunological problems (associated with low IgA and IgG)
- Congenital hip dislocation