Fig. 3

Genotype-phenotype analysis. a Different colors indicate the functional class of the amino acid residue in structural model (legend 1). Different symbols indicate the PubMed identifier (PMID) of publications describing ≥5 individuals (legend 2). Individuals described here or in the literature are sorted on the x-axis by variant functional class, localization and publication. On the y-axis phenotype categories with at least 60% data availability are presented (see also Additional file 1: Figure S7). Grey highlighted boxes indicate variants at the same amino acid position (also labeled) and boxes with dashed lines indicate related individuals with the same variant. b Mosaic plots showing the relations between individual groups (fetuses, born), variant structural function (MAP_binding = “MB”, Tubulin_folding = “TF”, Lumen_facing = “LF”, Intradimer_interaction = “II”, Longitudinal_interaction = “LoI”, Lateral_interaction = “LaI”, GTP_binding = “GB”) and sex of the individual (female = f, male = m). c Association plot showing the relation between recurrently affected amino-acid positions (recurrent_AA) and the neuroradiological feature of cortical gyration (pachygyria = “Pg”, polymicrogyria = “PMG”, perisylvian polymicrogyria = “PsPMG”, cortical gyral simplification = “CgS”, agyria = “Ag”, other = “O”, absent = “a”). This example (see Additional file 1: Figure S8) indicates a possible genotype-phenotype correlation for certain recurrent variants. d Association plot showing the relation between publications describing ≥5 individuals (“pubmed_ID”) and the neuroradiological feature of cortical gyration. This example (see also Additional file 1: Figure S9) indicates a probable reporting bias for this clinical feature. Two-sided Fisher’s exact test has been used to estimate the presented p-values