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Meckel syndrome, type 3

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Description

Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

92

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Genes

External Links

  • OMIM

    607361

  • Orphanet
  • HPO
  • Medgen

    C1846357

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