Genes that were part of this signature on the brain side were the TCF4, ATN1, PPP2R2B, ATXN10 and ATXN3, which are associated with neurodegenerative and developmental disorders such as Pitt-Hopkins Syndrome [48], Dentatorubral pallidoluysian atrophy [49], SCA12 [50], SCA10 [51] and SCA3 [52]. Here, ATXN3 is linked to Pitt-Hopkins syndrome.