TOR1AIP1-related multisystem disorder https://github.com/monarch-initiative/mondo/issues/8785 TOR1AIP1-related multisystem disorder, like TOR1AIP1-related myopathy, is considered a subtype of the broader phenotypic spectrum of TOR1AIP1-related nuclear envelopathy caused by loss of function of the TOR1AIP1 gene. MONDO:0100591 TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis. TOR1AIP1-related nuclear envelopathy