| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Gray matter heterotopia is a neurological disorder caused by clumps of grey 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. (Human Phenotype Ontology, HP_0002281) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0002281 |
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6 genes associated with the gray matter heterotopias phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
