Interestingly, defects of other components of the dynein-2 complex, DYNC2H1, WDR34, WDR60 in human have been associated with the clinical phenotype of SRPS type III, Jeune syndrome / asphyxiating thoracic dystrophy (SRTD3/8/11)34. The gene discussed is DYNC2I2; the disease is Jeune syndrome.