For example, individuals 1-2 both have microcephaly and abnormal neuroimaging studies, while individual 3, with normal cognition, has neither, but rather presents with abnormal skeletal features such as abnormal vertebrae, scoliosis, pectus carinatum, and joint hyperlaxity, possibly explained by a homozygous GALNS (c.1158-3C > G) variant. The gene discussed is GALNS; the disease is scoliosis.