For instance, the enriched pathway term “RHO GTPases activate IQGAPs” (padj=2.39e−2) included oCCDD genes (TUBB3, TUBA1A, ACTB), but also highlighted CTNNA1, which had a DNV in pedigree 99 with syndromic sporadic CFEOM (Supplementary Tables 7,9). The gene discussed is CTNNA1; the disease is congenital fibrosis of the extraocular muscles.