Fig. 2
From: Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
Phenotypic spectrum of tuberous sclerosis complex (TSC) patients with mosaic subtypes or germline disease. Patients were first sorted by the variant allele fraction in the blood from highest to lowest, and then from the highest to lowest sum of total findings (major and minor mucocutaneous and major internal), color-coded from dark red to yellow. Those with germline disease tended to have a greater extent of disease than those with mosaic TSC. The phenotype of mosaic TSC ranged from very mild to indistinguishable from germline TSC. Bolded text indicates those with asymmetrical angiofibroma mosaicism. Patients with asymmetrical angiofibroma mosaicism have fewer findings (enriched toward the bottom), whereas those with symmetrical angiofibroma mosaicism tended to have more findings (enriched towards the top). IF internal findings, MCF mucocutaneous findings, NA not applicable (patients who lack UF but are under age 30 years), U unknown.
