PDHA1 and Marshall-Smith syndrome: Known diseases caused by mutations in the identified genes include: L1 syndrome by mutation in L1cam68, 69, Warburg micro syndrome by mutations in Rab1870, and Miller-Dieker syndrome by deletion of Ywhae71, 72 (cluster A); Malan syndrome (Sotos syndrome 2) and Marshall-Smith syndrome by Nfix haploinsufficiency73, 74, 75, 76, and FG syndrome by mutation in Flna77, 78 (cluster B); Fumarase deficiency by mutations in FH79, 80, 81 (cluster D); Pyrvate dehydrogenase deficiency by mutations in pdha1 or pdhb82 (cluster E).