Roberts syndrome
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Inactivating mutations in <span class="gene" id="16380922-0-26-31">ESCO2</span> cause SC phocomelia and <span class="disease" id="16380922-0-56-72">Roberts syndrome</span>: no phenotype-genotype correlation.