Acanthocytosis with Neurologic Disorder
Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndromes
Levine Critchley Syndrome
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.