De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

When comparing the frequency of observed de novo variation to the expected background frequency of de novo missense or loss-of-function variation in RALA (6.16 x 10 −6 per chromosome) [ 17 ], we find a highly significant enrichment for de novo variants in affected probands (8 observed de novo variants in 32172 screened alleles vs. 0.198 expected, Exact Binomial test p = 4.93 x 10 −11 ).

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