Variants
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Cataract 11 multiple types

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Description

Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar. The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Autosomal recessive inheritance

VARIANTS

4

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Genes

External Links

  • OMIM

    610623

  • Orphanet
  • HPO
  • Medgen

    C1864567

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