On the other hand, early onset multisystem anomalies, such as congenital hearing loss, bilateral cataracts, developmental delay, growth retardation and progressive progeroid appearance have been documented only in individuals bearing the homozygous p.(Arg321*), who have a combined LAP1B and LAP1C deficiency (Fichtman et al. 2019). Here, TOR1AIP1 is linked to cataract.