Neuroacanthocytosis (Knowledge)
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Conditions (26):
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About Neuroacanthocytosis
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.
