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pontocerebellar hypoplasia type 2C - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia type 2C

MONDO:0012891

Also known as:TSEN34 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34PCH2C

Overview

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.

GeneticsAutosomal recessive · TSEN34 (chr 19)

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: Cerebellar vermis hypoplasia, Microcephaly, Dystonia, and Cerebellar hemisphere hypoplasia and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Dystonia, Chorea
Head and neck

Genetic Landscape

TSEN34 function has not been fully characterized.

Pontocerebellar hypoplasia type 2C is associated with mutations in the TSEN34 gene on chromosome 19.

Diagnosis

Genetic testing for TSEN34 is available. Testing is considered confirmatory for diagnosis.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612390

GARD

Genetic and Rare Diseases Info Center

GARD:15554

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 2C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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