Fig. 2: Phenotypic heterogeneity in individuals (X-axis) carrying the SHANK3 p.Ala1227Glyfs*69 variant reported in the MSSNG⁶, SSC^32,33, and in published papers^{4,36,38,39,40,41,42,71}.

Those individuals in the same family are grouped within the black boxes. Gray spaces indicate the absence of the phenotype. White spaces indicate that the phenotype might have not been accessed in the proband. Phenotypic categories are described in Table 3. Individual S7 was not formally reported as being formally tested for ASD. *Caution is needed in the interpretation of these frequencies since some phenotypes were not assessed for some individuals.