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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Moskowitz AM, et al. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a000851. doi: 10.1101/mcs.a000851. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626064 Free PMC article.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Among authors: moskowitz am. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025