Fig. 5: Comparison of phenotypic features of females with different USP9X variant types and with males.
From: Missense variant contribution to USP9X-female syndrome
a Location of bona fide loss-of-function variants in individuals with USP9X-female syndrome. Three novel variants described in this study are annotated. b Images showing facial dysmorphisms of females affected by novel nonsense and frameshift USP9X variants. Note resemblance to individuals in Fig. 4c. c Comparison of clinical features of females with missense and single amino acid deletions (n = 12) variants with females harbouring null alleles including all previously published cases and three novel cases identified in this study (n = 23). Sankey plot highlights overlap across all features except short stature. d Comparison of clinical features of a combined female cohort (n = 35) with phenotypes of all published males with likely pathogenic variants (n = 16). Sankey plot highlights overlap across neurological features but not in other major female associated congenial phenotypes. Thickness of each stream is proportional to the percentage of cases with each feature, which is also provided numerically at the terminal nodes.
