ODHO 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

 

  • 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

  • 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

  • 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