These two genes have not so far been associated with neurodevelopmental conditions; however, mutations in ABCC6 are responsible for pseudoxanthoma elasticum (OMIM 264800), a multisystem genetic disorder characterised by dystrophic mineralisation of soft connective tissues in a number of organs, including skin, eyes and arterial blood vessels [61]. The gene discussed is ABCC6; the disease is pseudoxanthoma elasticum (inherited or acquired).