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Cataract 21 multiple types

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Description

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset. The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

20

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Genes

External Links

  • OMIM

    610202

  • Orphanet
  • HPO
  • Medgen

    C3888097

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