hereditary spastic paraplegia 56
ORPHA: 320411
Overview
hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome 4q25
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hereditary spastic paraplegia 56, sourced from HPO and Orphanet clinical annotations.
Lower limb hyperreflexiaBabinski signGlobal developmental delaySpastic gaitUnsteady gaitTip-toe gaitIntellectual disabilitySpastic paraplegiaDystoniaHypoplasia of the corpus callosumAbnormal globus pallidus morphologyAbnormal cerebral white matter morphologyPeripheral axonal neuropathyCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:320411hereditary spastic paraplegia 56
| Orphanet | ORPHA:320411 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO