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hypomyelinating leukodystrophy 12 (HLD12) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomyelinating leukodystrophy 12

MONDO:0014732

Also known as:HLD12VPS11 leukodystrophyVPS11-related autosomal recessive hypomyelinating leukoencephalopathy

Overview

Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.

GeneticsAutosomal recessive · VPS11 (chr 11)

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: Flexion contracture and Hypoplasia of the corpus callosum. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Poor speech, Focal impaired awareness seizure, Cerebral hypomyelination

Genetic Landscape

VPS11 function has not been fully characterized.

Hypomyelinating leukodystrophy 12 is associated with mutations in the VPS11 gene on chromosome 11.

Diagnosis

Genetic testing for VPS11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 hypomyelinating leukodystrophy 12.

21 publications have been identified in PubMed for hypomyelinating leukodystrophy 12. Research spans Case Report / Case Series (55%), Review / Meta-Analysis (15%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	11	55%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616683

Orphanet

European rare disease database

Orphanet:466934

GARD

Genetic and Rare Diseases Info Center

GARD:17837

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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hypomyelinating leukodystrophy 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypomyelinating leukodystrophy 12

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications