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oculorenocerebellar syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculorenocerebellar syndrome

MONDO:0009772

Also known as:ORC syndromeabsence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathyabsence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy

Overview

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Choreoathetosis, Reduced kidney function (renal insufficiency), Protein in the urine (proteinuria), and Strabismus and others; and common findings: Spastic diplegia, Wide mouth, Narrow face, and Mandibular prognathia and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	7	Retinal degeneration, Strabismus, Visual impairment

Prognosis

Phenotype severity distribution: 11 very common features, 13 common features.

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 oculorenocerebellar syndrome.

10 publications have been identified in PubMed for oculorenocerebellar syndrome. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	5	50%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:257970

Orphanet

European rare disease database

Orphanet:2715

GARD

Genetic and Rare Diseases Info Center

GARD:4050

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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oculorenocerebellar syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

oculorenocerebellar syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications