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pontocerebellar hypoplasia, type 1D (PCH1D) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, type 1D

MONDO:0054844

Also known as:PCH1D

Overview

GeneticsAutosomal recessive · EXOSC9 (chr 4)

ResearchLimited published research (2 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: Generalized hypotonia, Global developmental delay, and Weak cry; and common findings: Poor head control, Gaze-evoked nystagmus, Seizure, and Cerebral cortical atrophy and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	12	Flexion contracture, Cerebral cortical atrophy, Shrinkage of the cerebellum (cerebellar atrophy)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EXOSC9 encodes exosome component 9 (439 aa). Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. Highest expression in Cells EBV-transformed lymphocytes (43.9 TPM) and Testis (34.6 TPM).

Pontocerebellar hypoplasia, type 1D is associated with mutations in the EXOSC9 gene on chromosome 4.

EXOSC9 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for EXOSC9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 26 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 1D.

2 publications have been identified in PubMed for pontocerebellar hypoplasia, type 1D. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Bressman ZJ (2025). [PMID: 40045779](https://pubmed.ncbi.nlm.nih.gov/40045779/). *Philos Trans R Soc Lond B Biol Sci*. [Review / Meta-Analysis]
Ahammed KS (2025). [PMID: 39982806](https://pubmed.ncbi.nlm.nih.gov/39982806/). *G3 (Bethesda)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618065

GARD

Genetic and Rare Diseases Info Center

GARD:16289

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 1D

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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