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pontocerebellar hypoplasia type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia type 3

MONDO:0011948

Also known as:PCH with optic atrophyPCH without dyskinesiaPCH3

Overview

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

GeneticsAutosomal recessive · PCLO (chr 7)

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: Shrinkage of the cerebellum (cerebellar atrophy), Seizure, Hypoplasia of the pons, and Atrophy/Degeneration affecting the brainstem and others; and sometimes findings: Damage to the optic nerve (optic atrophy) and Optic disc pallor. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Hypoplasia of the brainstem, Seizure, Atrophy/Degeneration affecting the brainstem

Genetic Landscape

PCLO function has not been fully characterized.

Pontocerebellar hypoplasia type 3 is associated with mutations in the PCLO gene on chromosome 7.

Diagnosis

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

Prognosis

Phenotype severity distribution: 10 always present 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 3.

4 publications have been identified in PubMed for pontocerebellar hypoplasia type 3. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

Pankaj P (2026). [PMID: 41326055](https://pubmed.ncbi.nlm.nih.gov/41326055/). *Magn Reson Chem*. [Basic Science / Preclinical]
Baneshi M (2025). [PMID: 42038819](https://pubmed.ncbi.nlm.nih.gov/42038819/). *Galen Med J*. [Gene Therapy / Novel Therapeutics]
Lertsakulbunlue S (2025). [PMID: 40661989](https://pubmed.ncbi.nlm.nih.gov/40661989/). *Case Rep Pediatr*. [Case Report / Case Series]
Chick SL (2025). [PMID: 40753099](https://pubmed.ncbi.nlm.nih.gov/40753099/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608027

Orphanet

European rare disease database

Orphanet:97249

GARD

Genetic and Rare Diseases Info Center

GARD:10708

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 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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