Several MCP associated genes have been previously implicated in diseases such as Brugada Syndrome 9 and Spinal ataxia 19 & 22 (KCND3) [70–72], Systemic lupus erythematosus (SLE) (Y RNAs) [66], Joubert syndrome 31 and short-rib thoracic dysplasia 13 (CEP120) [73], Amyotrophic lateral sclerosis (ALS) (FAF1) [74], Urbach-Wiethe disease (ECM1) [75,76], mental retardation and other cohesinopathies such as Cornelia de Lange Syndrome (STAG1) [77,78], split hand/ split foot malformation (DYNC1I1) [79,80], and a wide range of cancers (PRC1) [81]. Here, CEP120 is linked to lipoid proteinosis.