IFT81 and polydactyly: In a 5-year-old girl of consanguineous Egyptian descent (A3286-21), who clinically presented with polydactyly, intellectual disability and NPHP, we detected a homozygous mutation affecting an obligatory donor splice site in IFT81 (intraflagellar transport 81 homologue Chlamydomonas; RefSeq accession number: NM_014055.3, MIM 605489) (c.1188+1G>A) (table 1 and figure 1A–D).