Figure 2. Distribution of potential disease-causing variants (DCVs) among solved/potentially solved patients. Potential DCVs were identified in 24 of the 34 patients, consistent with their clinical phenotypes and inheritance patterns. The figure illustrates the distribution of variant types (missense, nonsense, splice site, and frameshift). For individuals with dual molecular diagnoses, each variant was considered separately, resulting in a total of 28 distinct variants included in the analysis. Variants listed in Appendix 9 are represented here. For P1, three variants (a complex variant in ABCA4 and an additional variant in CLRN1) were evaluated individually.