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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.

Year introduced: 2008 (2000)

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Tree Number(s): C10.228.662.262.249.937, C16.320.400.550

MeSH Unique ID: D054546

Entry Terms:

  • Chorea Acanthocytosis Syndrome
  • Chorea Acanthocytosis Syndromes
  • Acanthocytosis with Neurologic Disorder
  • Choreoacanthocytosis
  • Choreoacanthocytoses
  • Levine-Critchley Syndrome
  • Levine Critchley Syndrome
  • Chorea Acanthocytosis
  • Acanthocytoses, Chorea
  • Acanthocytosis, Chorea
  • Chorea Acanthocytoses
  • Chorea-Acanthocytosis
  • Chorea-Acanthocytoses

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