TSC1 and angiomyolipoma: Other important findings of this study include significantly greater frequency of TSC2 mutations, particularly frameshift variants; equal disease burden amongst male and female patients; delayed rhabdomyoma resolution in TSC1 patients; the significantly greater prevalence of cortical tubers, communication disorders and angiomyolipoma in TSC2 patients; most frequent co-occurrence of organ involvement between brain and kidneys; a diverse disease trajectory in TSC2 patients; and most probable disease association trajectory of CHD → NDD → KD in TSC2 individuals.