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olivopontocerebellar atrophy-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

olivopontocerebellar atrophy-deafness syndrome

MONDO:0017135

Also known as:olivopontocerebellar atrophy deafness

Overview

Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.

ResearchLimited published research (4 articles)

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: Hearing loss (hearing impairment), Ataxia, Overactive reflexes (hyperreflexia), and Enlarged brain ventricles (ventriculomegaly) and others; and common findings: Nystagmus and Olivopontocerebellar atrophy. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Ataxia, Overactive reflexes (hyperreflexia)

Prognosis

Phenotype severity distribution: 5 very common features, 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 olivopontocerebellar atrophy-deafness syndrome.

4 publications have been identified in PubMed for olivopontocerebellar atrophy-deafness syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Ünsal Y (2026). [PMID: 39975416](https://pubmed.ncbi.nlm.nih.gov/39975416/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]
Joffily L (2026). [PMID: 40790250](https://pubmed.ncbi.nlm.nih.gov/40790250/). *Ear Hear*. [Review / Meta-Analysis]
Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]
Szymanowicz O (2024). [PMID: 38785745](https://pubmed.ncbi.nlm.nih.gov/38785745/). *Diseases*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2732

GARD

Genetic and Rare Diseases Info Center

GARD:4070

Questions for Your Care Team

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olivopontocerebellar atrophy-deafness syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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