Variation within the SYT1 gene has previously been associated with an autosomal dominant neurodevelopmental disorder (Baker-Gordon syndrome; OMIM 618218) characterized by neurodevelopmental delay, hypotonia, autistic features, non-specific white matter abnormalities, feeding problems, dysmorphic features, scoliosis, strabismus, nystagmus and self-injurious behaviour [30,31]. Here, SYT1 is linked to scoliosis.