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leukodystrophy, hypomyelinating, 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 25

MONDO:0859378

Overview

GeneticsAutosomal dominant · TMEM163 (chr 2)

ResearchLimited published research (3 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: Delayed CNS myelination, Delayed ability to walk, Nystagmus, and Mild global developmental delay; and very common findings: Low muscle tone (hypotonia). 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Delayed speech and language development, Dystonia, Seizure

Genetic Landscape

TMEM163 function has not been fully characterized.

Leukodystrophy, hypomyelinating, 25 is associated with mutations in the TMEM163 gene on chromosome 2.

Diagnosis

Genetic testing for TMEM163 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 4 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, 25.

3 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 25. Research spans Epidemiology / Natural History (67%) and Case Report / Case Series (33%).

Recent Publications

Drobňaková S (2026). [PMID: 42195294](https://pubmed.ncbi.nlm.nih.gov/42195294/). *Life (Basel)*. [Epidemiology / Natural History]
Shiva M (2025). [PMID: 39558671](https://pubmed.ncbi.nlm.nih.gov/39558671/). *Journal of child neurology*. [Epidemiology / Natural History]
Wang Z (2024). [PMID: 39456768](https://pubmed.ncbi.nlm.nih.gov/39456768/). *International journal of molecular sciences*. [Case Report / Case Series]

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:620243

Questions for Your Care Team

→Should I pursue genetic testing for TMEM163, and what would the results mean for my family?
→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, 25

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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