Despite its widespread expression, TUBB4B has been implicated in three distinct classes of autosomal‐dominant ciliopathic disease in humans: (a) in primary ciliary dyskinesia (PCD), (b) in a sensorineural disease (SND) that presents with Leber congenital amaurosis and early onset hearing loss (LCAEOD; OMIM #617879), and (c) in their combination (PCD + SND). The gene discussed is TUBB4B; the disease is primary ciliary dyskinesia.