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cortical blindness-intellectual disability-polydactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cortical blindness-intellectual disability-polydactyly syndrome

MONDO:0009024

Also known as:cortical blindness, retardation, and postaxial polydactyly

Overview

This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly.

ResearchLimited published research (1 article)

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 cortical blindness-intellectual disability-polydactyly syndrome.

1 publication has been identified in PubMed for cortical blindness-intellectual disability-polydactyly syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Zhang Q (2024). [PMID: 39126056](https://pubmed.ncbi.nlm.nih.gov/39126056/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 10:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218010

Orphanet

European rare disease database

Orphanet:1389

GARD

Genetic and Rare Diseases Info Center

GARD:1548

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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cortical blindness-intellectual disability-polydactyly syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team