|
skos:definition |
MSH: An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.,NCI: A group of neurologic disorders associated with acanthocytosis on the peripheral blood smear. The neurologic disorders include movement disorders, ataxia, cognitive disturbances, personality changes, and seizures.
|
