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Trait

Dysmyelinating leukodystrophy

HPO HP:0006978

Summary

Body system
Abnormality of the nervous system

3 genes linked to Dysmyelinating leukodystrophy

Changes in these genes cause rare conditions in which Dysmyelinating leukodystrophy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
DARS2aspartyl-tRNA synthetase 2, mitochondrialOften (30–79%)In 1 condition
SOX10SRY-box transcription factor 10Often (30–79%)In 2 conditions
FA2Hfatty acid 2-hydroxylaseNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Leukodystrophy

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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