Neuroacanthocytosis

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Is a:
  • Disease or Syndrome
Definition:
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.
Synonyms:
  • Chorea Acanthocytosis Syndrome
  • Chorea Acanthocytosis Syndromes
  • Choreoacanthocytoses
  • Choreoacanthocytosis
  • Levine Critchley Syndrome
  • Levine-Critchley Syndrome
Broader Topics:
Narrower Topics:
  • None
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  • List of topics based on word similarity