The exon-enriched NGS led to the identification of the mutations in two genes: (1) WDR19, encoding the intraflagellar transport component IFT144, known to be associated with ciliopathies caused by the improper function of the primary cilia [242]; and (2) TEKT1, which earlier was not associated with ciliopathies. The gene discussed is TEKT1; the disease is ciliopathy.