Rare diseases · Sign or symptom
Gray matter heterotopia
HP:0002282
What it means
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Gray matter heterotopia is caused by clumps of gray matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used.
Rare diseases that can present with this21
Common30–79%
8- Cobblestone lissencephaly without muscular or ocular involvement
- Congenital muscular dystrophy with cerebellar involvement
- Isolated lissencephaly type 1 without known genetic defects
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Subependymal nodular heterotopia
- Thanatophoric dysplasia
- Vici syndrome
Sometimes5–29%
9- 9q21.13microdeletion syndrome
- ALG11-CDG
- Cerebrofacioarticular syndrome
- Chudley-McCullough syndrome
- Hemimegalencephaly
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Polymicrogyria due to TUBB2B mutation
- Proteus syndrome
and 1 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: Gray matter heterotopias · Grey matter heterotopia · Grey matter heterotopias · Heterotopia · Heterotopias · Neuronal heterotopia
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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.