Faundes-Banka syndrome: Difference between revisions

'''Faundes-Banka syndrome''' (FABAS) is an [[autosomal]] [[Dominance (genetics)|dominant]] disorder characterized by variable combinations of [[developmental delay]] and [[microcephaly]], as well as [[micrognathia]] and other [[dysmorphic feature]]s. It is caused by impaired function of [[EIF5A]].<ref>[https://www.nature.com/articles/s41467-021-21053-2 Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine]</ref>