Figure 1.
Classification of the KND cohort and results of clinical WES analysis. (a) Subjects by disease inheritance patterns. Class 1: autosomal dominant families; Class 2: families with affected siblings; Class 3: affected individuals with no family history. (b) Major clinical features of the KND cohort. (c) Diagnostic yield of 553 patients with undiagnosed symptoms using WES. (d) Pathogenic variants divided by inheritance patterns. (e) GO and disease enrichment analysis of 164 known genes. (f) Brain anatomical and developmental categorization used for our analysis. Components of each brain region is shown in Supplementary Fig. S9. (g) Strength of the co-expression network composed of our known/novel genes compared to random networks as measured by 105 permutations.