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pontocerebellar hypoplasia, IIA 17 (PCH17) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, IIA 17

MONDO:0030890

Also known as:PCH17

Overview

GeneticsAutosomal recessive · PRDM13 (chr 6)

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: Motor delay, Cerebellar vermis hypoplasia, Axial hypotonia, and Global developmental delay and others; and common findings: Hypoplasia of the brainstem, Seizure, Cerebellar hemisphere hypoplasia, and Hyporeflexia and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Paroxysmal dystonia, Hypoplasia of the brainstem, Seizure

Genetic Landscape

PRDM13 function has not been fully characterized.

Pontocerebellar hypoplasia, IIA 17 is associated with mutations in the PRDM13 gene on chromosome 6.

Diagnosis

Genetic testing for PRDM13 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 7 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619909

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, IIA 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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