Siderius-Hamel sendromu
Kalıtsal -XLR
Yüz uzun kaşlar çıkıntılı
Göz kapak anomalileri
Yayvan burun ucu
Yark dudak
Yarık damak
Kifoz
Eller iri-uzun
Ayak anomalileri
İnmemiş testisler
Konuşma bozukluğu
Zeka geriliği
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Abidi FE, Miano MG, Murray JC, Schwartz CE. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clinical Genetics, 72: 19-22, 2007
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Qiao Y, Liu X, Harvard C, et al. Autism-associated familial microdeletion of Xp11.22. Clinical Genetics, 74: 134-144, 2008
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Loenarz C, Ge W, Coleman ML, et al. PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an N-epsilon-dimethyl lysine demethylase. Human Molecular Genetics, 19: 217-222, 2010