Rare diseases · Sign or symptom
Leukoencephalopathy
HP:0002352
What it means
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
This feature can be demonstrated by magnetic resonance imaging or computer tomography.
Rare diseases that can present with this19
Very common80–99%
6Common30–79%
4Sometimes5–29%
8- ALG8-CDG
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Methylmalonic acidemia with homocystinuria, type cblC
- Multiple mitochondrial dysfunctions syndrome type 1
- NAD(P)HX epimerase deficiency
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Reversible cerebral vasoconstriction syndrome
- WARS2-related combined oxidative phosphorylation defect
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.