Fig. 3

Diagnostic SNVs/Indels were identified in our cohort. (a) Inheritance patterns among diagnostic SNVs/Indels. (b) Mutation types among diagnostic SNVs/Indels. (c) Heatmap of identified causative genes with diagnostic SNVs/Indels among phenotype groups. Genes appeared in ≥ 2 patients are displayed. The color of each cell represents the number of patients diagnosed by the specific gene (row) in the relevant phenotype group (column). (d) Distribution of diagnostic genes in different clinical features. The three circles represent the three clinical features: yellow for hearing loss, purple for visual loss, and pink for facial dysmorphism. Overlap between the different circles shows the overlap of genes among these clinical features. DD, developmental disorder; ID, intellectual disability; SNVs, single nucleotide variations; Indels, small insertions/deletions