PKHD1 and Cockayne syndrome: We also detected one case each (2.5% of total abnormalities) of Wilson’s disease (mutations in ATP7B), cystic fibrosis (mutations in CFTR), Cockayne syndrome (mutations in ERCC6), auditory neuropathy (mutations in OTOF), and autosomal recessive polycystic kidney disease (mutations in PKHD1).