Condition: Robinow syndrome, autosomal recessive


rs121909083 in ROR2 gene and Robinow syndrome, autosomal recessive PMID 10932186 2000 Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

PMID 10932187 2000 Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

PMID 19640924 2009 A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.