Rare diseases · Sign or symptom
Abnormal periventricular white matter morphology
HP:0002518
What it means
A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
Rare diseases that can present with this26
Very common80–99%
2Common30–79%
10- Acute disseminated encephalomyelitis
- Alexander disease type II
- Autosomal recessive spastic paraplegia type 78
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Infantile Krabbe disease
- Takenouchi-Kosaki syndrome
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
- VPS11-related autosomal recessive hypomyelinating leukodystrophy
- WARS2-related combined oxidative phosphorylation defect
- X-linked cerebral adrenoleukodystrophy
Sometimes5–29%
13- 9q33.3q34.11microdeletion syndrome
- Autosomal recessive spastic paraplegia type 63
- Autosomal recessive spastic paraplegia type 9B
- Congenital muscular dystrophy with intellectual disability
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Glutaric acidemia type 3
- Infantile-onset X-linked spinal muscular atrophy
- Microcephalic cortical malformations-short stature due to RTTN 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
Also called: Abnormality of the periventricular white matter · Periventricular white matter abnormalities
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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.