PAFAH1B1 and cardiomyopathy: Further to these, the other 40 gene expression profiles most influenced by variation in SNIP1 includes two other genes (PAFAH1B1 and TOR1AIP1) associated with brain structural abnormalities, five (PLXND1, TNS1, CAVIN4, EYA4 and TOR1AIP1) associated with cardiac defects including several conotruncal heart defects and cardiomyopathy, and two (LINGO2 and SOX5) with dysmorphic craniofacial features (Tables A and B in S2 Table) overlapping features of SNIP1-related disorder.