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leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy

MONDO:0030514

Also known as:HLD23

Overview

GeneticsAutosomal recessive · RNF220 (chr 1)

OnsetJUVENILE

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: Dysarthria, Ataxia, Thin corpus callosum, and Inner ear hearing loss (sensorineural hearing impairment) and others; and common findings: Peripheral axonal neuropathy, Motor delay, and Intellectual disability. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Peripheral axonal neuropathy, Seizure, Dysarthria

Genetic Landscape

RNF220 function has not been fully characterized.

Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy is associated with mutations in the RNF220 gene on chromosome 1.

Diagnosis

Genetic testing for RNF220 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 3 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, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy.

2 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy. Research spans Epidemiology / Natural History (100%).

Recent Publications

Fathi M (2025). [PMID: 40594583](https://pubmed.ncbi.nlm.nih.gov/40594583/). *Sci Rep*. [Epidemiology / Natural History]
El-Karaksy H (2025). [PMID: 41165782](https://pubmed.ncbi.nlm.nih.gov/41165782/). *Hum Genet*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619688

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, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy

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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