Rare diseases · Sign or symptom
Cerebral white matter atrophy
HP:0012762
What it means
The presence of atrophy (wasting) of the cerebral white matter.
Rare diseases that can present with this22
Common30–79%
6Sometimes5–29%
13- ALG11-CDG
- COG5-CDG
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Lissencephaly type 1 due to doublecortin gene mutation
- Megalencephalic leukoencephalopathy with subcortical cysts
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- Proximal 3p25.3 microdeletion syndrome
- Pyruvate carboxylase deficiency
and 5 more in this range
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.