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Moyamoya disease 5

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Description

Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

6

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Genes

External Links

  • OMIM

    614042

  • Orphanet
  • HPO
  • Medgen

    C3279690

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