The patient with CLUAP1 mutations and Leber congenital amaurosis had severe visual impairment with vision limited to light perception by 6 wk of age without other systemic features (Soens et al. 2016), whereas the patient presented here has a pleiotropic developmental disorder with features including polydactyly, cutaneous syndactyly, oculomotor apraxia, respiratory dysfunction, obesity, and an abnormal cerebellar vermis. This evidence concerns the gene IFT38 and Leber congenital amaurosis.