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leukodystrophy, hypomyelinating, 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 27

MONDO:0958018

Overview

GeneticsAutosomal recessive · POLR1A (chr 2)

ResearchLimited published research (8 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: Hypertonia, Poor head control, Dystonia, and Shrinkage of the cerebellum (cerebellar atrophy) and others; and common findings: Short stature, Seizure, Relative macrocephaly, and Nystagmus and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Dystonia, Seizure, Gait ataxia

Genetic Landscape

POLR1A function has not been fully characterized.

Leukodystrophy, hypomyelinating, 27 is associated with mutations in the POLR1A gene on chromosome 2.

Diagnosis

Genetic testing for POLR1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 17 always present features, 13 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 leukodystrophy, hypomyelinating, 27.

8 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 27. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).

Recent Publications

Kawai Y (2026). [PMID: 41729339](https://pubmed.ncbi.nlm.nih.gov/41729339/). *Neurogenetics*. [Case Report / Case Series]
Miyamoto Y (2026). [PMID: 41752091](https://pubmed.ncbi.nlm.nih.gov/41752091/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Tajamolian M (2026). [PMID: 42271096](https://pubmed.ncbi.nlm.nih.gov/42271096/). *Neurol Sci*. [Case Report / Case Series]
Mitsutake A (2026). [PMID: 41721156](https://pubmed.ncbi.nlm.nih.gov/41721156/). *Neurogenetics*. [Case Report / Case Series]
Lentini L (2025). [PMID: 39429022](https://pubmed.ncbi.nlm.nih.gov/39429022/). *Journal of child neurology*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620675

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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leukodystrophy, hypomyelinating, 27

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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