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'''ZTTK Syndrome (Zhu-Tokita-Takenouchi-Kim syndrome)''' is a rare disease caused in humans by a genetic mutation of the [[SON (gene)|SON gene]]. Common symptoms include sometimes moderate to severe [[intellectual disability]] and [[developmental delay]].<ref name=":0">{{cite journal|doi=10.1016/j.ajhg.2016.06.029|pmid=27545680|pmc=5011044|title=De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome|journal=The American Journal of Human Genetics|volume=99|issue=3|pages=711–719|year=2016|last1=Kim|first1=Jung-Hyun|last2=Shinde|first2=Deepali N|last3=Reijnders|first3=Margot R.F|last4=Hauser|first4=Natalie S|last5=Belmonte|first5=Rebecca L|last6=Wilson|first6=Gregory R|last7=Bosch|first7=Daniëlle G.M|last8=Bubulya|first8=Paula A|last9=Shashi|first9=Vandana|last10=Petrovski|first10=Slavé|last11=Stone|first11=Joshua K|last12=Park|first12=Eun Young|last13=Veltman|first13=Joris A|last14=Sinnema|first14=Margje|last15=Stumpel|first15=Connie T.R.M|last16=Draaisma|first16=Jos M|last17=Nicolai|first17=Joost|last18=Yntema|first18=Helger G|last19=Lindstrom|first19=Kristin|last20=De Vries|first20=Bert B.A|last21=Jewett|first21=Tamison|last22=Santoro|first22=Stephanie L|last23=Vogt|first23=Julie|last24=Bachman|first24=Kristine K|last25=Seeley|first25=Andrea H|last26=Krokosky|first26=Alyson|last27=Turner|first27=Clesson|last28=Rohena|first28=Luis|last29=Hempel|first29=Maja|last30=Kortüm|first30=Fanny|display-authors=etal}}</ref><ref name="omim">{{cite web|title=OMIM Entry # 617140 - ZTTK SYNDROME; ZTTKS|url=http://omim.org/entry/617140|website=[[Online Mendelian Inheritance in Man]]|publisher=[[Johns Hopkins University]]|access-date=27 October 2017}}</ref>
Characteristic abnormalities include cerebral cortex malformations, vision difficulties, [[Musculoskeletal abnormality|musculoskeletal abnormalities]] and [[Birth defect|congenital defects]].<ref name=":0" /> Individuals with a mutation in the SON gene may not all display these features. However, SON loss of function (LoF) variants appear to cause a clinically distinguished phenotype.<ref name=":0" />
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