GLE1 and lethal congenital contracture syndrome 1: GLE1 dysfunction has been associated with several devastating diseases including ALS [4], rare diseases enriched in isolated populations such as lethal congenital contracture syndrome 1 [5] (LCCS1, OMIM #253310, autosomal recessive), and congenital arthrogryposis with anterior horn cell disease (CAAHD, OMIM #611890, autosomal recessive‐homozygous or compound heterozygous mutation), as well as other developmental disorders [6, 7, 8].