M
MEND sendromu
Kalıtsal - XLR
Boy kısa
Kulaklar aşağıda
Katarakt
Kısa-yüksek burun sırtı
Yüz orta bölüm hipoplazisi
Mikroretrognati
Çukur damak
Kalp anomalileri
Aorta stenozu
İnmemiş testisler
Skolyoz
Kifoz
Parmak anomalileri
Deride pigmentasyon bozuklukları
İktiyozis
Hipotoni
Psikomotor gelişme geriliği
Epileptiform ataklar
Hidrosefali
Dandy-Walker malformasyonu
Corpus callosum hipoplazisi/agenezi
Zeka geriliği
Agresif ve hiperaktif davranışlar
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Furtado LV, Bayrak-Toydemir P, Hulinsky B, et al. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. American Journal of Medical Genetics, 152A: 2838-2844, 2010
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Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R. Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects). British Journal of Dermatology, 166: 1309-1313, 2012
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Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, et al. A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. American Journal of Medical Genetics, 161A: 237-243, 2013
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Barboza-Cerda MC, Wong L-J, Martinez-de-Villareal LE, et al. A novel EBP c.224T-A mutation supports the existence of a male-specific disorder independent of CDPX2. Am. J. Med. Genet. 164A: 1642-1647, 2014
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Hartill VL, Tysoe C, Manning N, et al. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. Am. J. Med. Genet. 164A: 907-914, 2014