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NPHP3-related Meckel-like syndrome

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Description

This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature. Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

99

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Genes

External Links

  • OMIM

    267010

  • Orphanet

    3032

  • HPO
  • Medgen

    C2673885

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