Fig. 3. Variant genes are replicated in small families and highlight the neural function.
a Additional variants in SH3PXD2A and SLC26A8 were occurred in small families 312 and 319, respectively. b Functional category of neural-related gene set identified by WGS and WES, respectively, in large and small families. c Gene ontology (GO) analysis suggested neural synaptic processes and cell adhesion were functional categories for candidate genes. d KEGG pathway enrichment indicated long-term depression and neuroactive ligand-receptor interaction were significantly highlighted. The Fisher exact test (two-sided) was used for GO and KEGG enrichment.