Rare diseases · Sign or symptom
Abnormal cerebral white matter morphology
HP:0002500
What it means
An abnormality of the cerebral white matter.
This finding can be demonstrated by magnetic resonance imaging, especially with t2 signaling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex.
Rare diseases that can present with this72
Very common80–99%
8Common30–79%
29- African trypanosomiasis
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 5A
- Behavioral variant of frontotemporal dementia
- CADDS
- Cerebral visual impairment
- CLCN4-related X-linked intellectual disability syndrome
- Cobblestone lissencephaly without muscular or ocular involvement
- Combined oxidative phosphorylation defect type 27
- Combined oxidative phosphorylation defect type 39
- Congenital muscular dystrophy without intellectual disability
- Glioblastoma
- GM1 gangliosidosis
- Idiopathic camptocormia
- Juvenile Huntington disease
- Kjellin syndrome
- Mercury poisoning
- Methylcobalamin deficiency type cblE
- Mitochondrial neurogastrointestinal encephalomyopathy
- Multiple mitochondrial dysfunctions syndrome type 5
- Phenylketonuria
- PLA2G6-related neurodegeneration, infantile-onset
- Pontocerebellar hypoplasia type 7
- Progressive non-fluent aphasia
- SATB2-associated syndrome due to a pathogenic variant
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- SLC35A2-CDG
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- X-linked intellectual disability, Nascimento type
Sometimes5–29%
35- ALG11-CDG
- Amoebiasis due to free-living amoebae
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant spastic paraplegia type 9A
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive spastic paraplegia type 56
and 27 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, and Orphanet separately records 1 disease where this sign is specifically absent. 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 subcortical white matter · Abnormality of the cerebral white matter · Cerebral white matter abnormalities · Cortical white matter abnormalities seen on MRI · Leukoaraiosis · White matter abnormalities · White matter alterations
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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.