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pontocerebellar hypoplasia, type 11 (PCH11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, type 11

MONDO:0054669

Also known as:PCH11Pontocerebellar hypoplasia due to TBC1D23

Overview

GeneticsAutosomal recessive · TBC1D23 (chr 3)

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: Happy demeanor, Severe intellectual disability, Hypoplasia of the pons, and Motor stereotypy and others; and common findings: Strabismus, Bulbous nose, Hypoplasia of the corpus callosum, and Autistic behavior and others. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Inability to walk, Seizure, Ataxia

Genetic Landscape

TBC1D23 function has not been fully characterized.

Pontocerebellar hypoplasia, type 11 is associated with mutations in the TBC1D23 gene on chromosome 3.

Diagnosis

Genetic testing for TBC1D23 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 5 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 11.

10 publications have been identified in PubMed for pontocerebellar hypoplasia, type 11. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (20%), and Other (10%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 6 of 12 sources · Last updated Nov 3, 2026, 7:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617695

Orphanet

European rare disease database

Orphanet:611247

GARD

Genetic and Rare Diseases Info Center

GARD:18029

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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Kisho

pontocerebellar hypoplasia, type 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pontocerebellar hypoplasia, type 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications