spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Findings
No curated finding names spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010051), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Infantile sensorineural hearing impairmentHPOHP:0008610
- Frequent (30% to 79% of cases)
- Profound intellectual disabilityHPOHP:0002187
- Frequent (30% to 79% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Frequent (30% to 79% of cases)
- Severely reduced visual acuityHPOHP:0001141
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
- Also called
- spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome