spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
MeSH: C564808ORPHA: 3011
Overview
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.
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 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Rod-cone dystrophySeverely reduced visual acuityProfound intellectual disabilityDevelopmental regressionInfantile sensorineural hearing impairment
Classification & Codes
MeSH Code
C564808Orphanet Code
ORPHA:3011spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
| MeSH | C564808 |
| Orphanet | ORPHA:3011 |
| Treatments | 0 drug(s) |
| Symptoms on record | 5 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO