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Results 1 - 3 of 3 for Phocomelia
  1. Roberts syndrome 
    ... feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal ... may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. SF3B4 gene 
    ... hands are located very close to the body (phocomelia). In addition, the fingers, toes, and a bone ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  3. ESCO2 gene 
    ... Francke U. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics