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Orofaciodigital syndrome type 6

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Description

Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

56

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Genes

External Links

  • OMIM

    277170

  • Orphanet

    2754

  • HPO
  • Medgen

    C2745997

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