OHDO sendromu
Young-Simpson sendromu
Spontan
Mikrosefali
Kabarık oksiput
Kulak kepçesi malformasyonları
Göz kapak yapışıklıkları
Burun sırtı düz
Burun uçu top gibi
Yarık dudak
Yarık damak
Mikrodonti
Mine hipoplazisi
Kalp anomalileri
Dilate kardiyomyopati
Hipotoni
Zeka geriliği
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Robinson DM, Meagher CC, Orlowski CC, et al. Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? American Journal of Medical Genetics, 146A: 1571-1574, 2008
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Szakszon K, Berenyi E, Jakab A, et al. Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging. American Journal of Medical Genetics, 155A: 634-637, 2011
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Szakszon K, Salpietro C, Kakar N, et al. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/ Biesecker/Young-Simpson syndrome. American Journal of Medical Genetics, 161A: 884-888, 2013