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pontocerebellar hypoplasia, type 13 (PCH13) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, type 13

MONDO:0032831

Also known as:PCH13

Overview

GeneticsAutosomal recessive · VPS51 (chr 11)

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 always present findings: Epicanthus, Pleural effusion, Inability to walk, and Strabismus and others; and common findings: Enlarged cisterna magna, Dandy-Walker malformation, and Short philtrum. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Inability to walk, Gait ataxia, Cerebral visual impairment

Genetic Landscape

VPS51 function has not been fully characterized.

Pontocerebellar hypoplasia, type 13 is associated with mutations in the VPS51 gene on chromosome 11.

Diagnosis

Genetic testing for VPS51 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 31 always present features, 3 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 pontocerebellar hypoplasia, type 13.

4 publications have been identified in PubMed for pontocerebellar hypoplasia, type 13. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Abdel-Ghafar SF (2026). [PMID: 41025723](https://pubmed.ncbi.nlm.nih.gov/41025723/). *Clin Genet*. [Case Report / Case Series]
Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Case Report / Case Series]
van Noort SAM (2025). [PMID: 41427983](https://pubmed.ncbi.nlm.nih.gov/41427983/). *Cerebellum*. [Basic Science / Preclinical]
Abdelrahman HA (2024). [PMID: 39086442](https://pubmed.ncbi.nlm.nih.gov/39086442/). *J Pediatr Genet*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618606

Orphanet

European rare disease database

Orphanet:613267

GARD

Genetic and Rare Diseases Info Center

GARD:18031

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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pontocerebellar hypoplasia, type 13

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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