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leukodystrophy, hypomyelinating, 26, with chondrodysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 26, with chondrodysplasia

MONDO:0859518

Overview

GeneticsAutosomal recessive · SLC35B2 (chr 6)

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: Sideways curvature of the spine (scoliosis) and Global developmental delay; and common findings: Delayed CNS myelination, Short stature, Shrinkage of the cerebellum (cerebellar atrophy), and Glossoptosis and others.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Hypoplastic cervical vertebrae, Short long bone, Sideways curvature of the spine (scoliosis)

Genetic Landscape

SLC35B2 function has not been fully characterized.

Leukodystrophy, hypomyelinating, 26, with chondrodysplasia is associated with mutations in the SLC35B2 gene on chromosome 6.

Diagnosis

Genetic testing for SLC35B2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 27 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, 26, with chondrodysplasia.

2 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 26, with chondrodysplasia. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Quelhas D (2026). [PMID: 41554664](https://pubmed.ncbi.nlm.nih.gov/41554664/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Pehlivan D (2026). [PMID: 41734767](https://pubmed.ncbi.nlm.nih.gov/41734767/). *Am J Hum Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620269

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, 26, with chondrodysplasia

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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