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spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

MONDO:0010051

Also known as:spastic quadriplegia-retinitis pigmentosa-intellectual disability syndromeprogressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing lossprogressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss

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.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome.

97 publications have been identified in PubMed for spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome. Kisho has analyzed 31 by research type. Research spans Review / Meta-Analysis (32%), Basic Science / Preclinical (29%), and Case Report / Case Series (23%).

Research Type	Count	% of Total
Research summaries	10

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:270950

Orphanet

European rare disease database

Orphanet:3011

GARD

Genetic and Rare Diseases Info Center

GARD:4932

Questions for Your Care Team

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spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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