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

Rare Disease

pontocerebellar hypoplasia type 2D

MONDO:0013438

Also known as:SEPSECS non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECSCerebellocerebral atrophy, progressive

Overview

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

GeneticsAutosomal recessive · SEPSECS (chr 4)

ResearchLimited published research (5 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: Seizure, Global developmental delay, Appendicular spasticity, and Paroxysmal tonic upgaze and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Spastic tetraplegia, Clonus, Brain shrinkage (cerebral atrophy)

Genetic Landscape

SEPSECS function has not been fully characterized.

Pontocerebellar hypoplasia type 2D is associated with mutations in the SEPSECS gene on chromosome 4.

Diagnosis

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

Prognosis

Phenotype severity distribution: 5 always present 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 2D.

5 publications have been identified in PubMed for pontocerebellar hypoplasia type 2D. Research spans Case Report / Case Series (40%), Other (20%), and Review / Meta-Analysis (20%).

Recent Publications

Feng Y (2026). [PMID: 41544681](https://pubmed.ncbi.nlm.nih.gov/41544681/). *Neurobiol Dis*. [Epidemiology / Natural History]
Ohfuji S (2025). [PMID: 40288240](https://pubmed.ncbi.nlm.nih.gov/40288240/). *Res Vet Sci*. [Case Report / Case Series]
Xuan X (2025). [PMID: 41070650](https://pubmed.ncbi.nlm.nih.gov/41070650/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Pettinato F (2025). [PMID: 40017499](https://pubmed.ncbi.nlm.nih.gov/40017499/). *Biomed Rep*. [Case Report / Case Series]
Kleinerova J (2025). [PMID: 40131525](https://pubmed.ncbi.nlm.nih.gov/40131525/). *J Neurol*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613811

GARD

Genetic and Rare Diseases Info Center

GARD:15717

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 2D

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

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