Such metabolic disorders mediated by ZBTB20 become more evident in patients with Primrose syndrome, an autosomal dominant disease caused by heterozygous missense variants in ZBTB20, manifested by multisystem failures including disturbed lipid and glucose metabolism as well as mitochondrial dysfunction [68,69]. Here, ZBTB20 is linked to Intellectual disability - cataracts - calcified pinnae - myopathy.