Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.

Among the 20 OMIM derived gene-lists (CNS+ above 19), for the 78 sb-RPD gene set, statistically significant overrepresentation at p < 0.0025 (0.05/20) was noted for gene lists annotated with clinical synopsis terms ‘central nervous system’ (p cor = 0.026), ‘head and neck’ (p cor = 0.037), and a nominally significant overrepresentation for ‘peripheral nervous system (0.057) (Supplement S2 and S3 and Supplementary Table 4 ).

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