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McLeod neuroacanthocytosis syndrome

Disease definition

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

ORPHA:59306

  • Synonym(s):
    • MLS
    • X-linked McLeod syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adult
  • ICD-10: G10
  • OMIM: 300842
  • UMLS: C0398568
  • MeSH: -
  • GARD: 10731
  • MedDRA: -

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