Variants
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Senior-Loken syndrome 5

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Description

Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000).

OMIM

  • Mode of Inheritance

  • Heterogeneous
  • Autosomal recessive inheritance

VARIANTS

54

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Genes

External Links

  • OMIM

    609254

  • Orphanet
  • HPO
  • Medgen

    C1836517

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