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

Rare Disease

pontocerebellar hypoplasia type 2B

MONDO:0012890

Also known as:TSEN2 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2PCH2B

Overview

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.

GeneticsAutosomal recessive · TSEN2 (chr 3)

ResearchLimited published research (1 article)

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: Clonus, Sloping forehead, Hypoplasia of the brainstem, and Myoclonic seizure and others; and very common findings: Seizure. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Clonus, Dystonia, Hypoplasia of the brainstem

Genetic Landscape

TSEN2 function has not been fully characterized.

Pontocerebellar hypoplasia type 2B is associated with mutations in the TSEN2 gene on chromosome 3.

Diagnosis

Genetic testing for TSEN2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 21 always present features, 1 very common feature, 3 common features.

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 2B.

1 publication has been identified in PubMed for pontocerebellar hypoplasia type 2B. Research spans Review / Meta-Analysis (100%).

Recent Publications

Lin X (2026). [PMID: 41621844](https://pubmed.ncbi.nlm.nih.gov/41621844/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612389

GARD

Genetic and Rare Diseases Info Center

GARD:15553

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 2B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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