Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c.118_125del, p.(Thr40Glyfs*11) and a c.352 +1G&#8201;&gt;&#8201;T in IFT27, which encodes a small GTPase component of the IFT-B complex.
C0152427
Polydactyly