PAFAH1B1 and myelodysplastic syndrome: Miller–Dieker syndrome (MDS) is a rare autosomal genetic disorder caused by a ~ 1.3 Mb deletion of the 17p13.3 chromosome region, which contains PAFAH1B1 (previously known as LIS1) and YWHAE, also known as 17p13.3 deletion syndrome, which affects approximately one in 13,000–20,000 newborns.