SMARCAL1 and Schimke immuno-osseous dysplasia: Besides, we also mapped all the pathogenic mutations in intron regions to the nucleotide structure map of SMARCAL1 (Supplementary Figure S1), among which a reported homozygousmutation c.2244+5 G > A in intron 14 detected in a SIOD patient with mild developmental delay and mild ID was near the novel c.2141+5G > A mutation in this study.