Variants
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Meckel syndrome, type 9

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Description

Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011). 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

19

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Genes

External Links

  • OMIM

    614209

  • Orphanet
  • HPO
  • Medgen

    C3280155

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