Extended Data Fig. 1: HPO terms for individuals in GEL.
From: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
(a) The proportion of individuals with human phenotype ontology (HPO) terms corresponding to phenotypes observed in ≥ 5 individuals with the n.64_65insT variant compared to all other individuals with NDD. Multiple HPO terms are significantly enriched in individuals with the n.64_65insT variant after Bonferroni adjustment (marked with a *) indicating that individuals with the n.64_65insT variant have more phenotypic similarity than the GEL NDD cohort as a whole. Multiple terms relating to global developmental delay, intellectual disability, hypotonia, seizure, microcephaly, autism, and short stature have been collapsed into single phenotypes. Of note, this figure relates only to HPO terms entered for each individual into GEL, which may be incomplete. Error bars indicate ±1 standard error. (b) Data plotted in panel (a) including statistics from two-sided Fisher’s exact tests. A P-value threshold of 2.94 × 10−3 was used to assess statistical significance (Bonferroni adjusted for 17 tests).
