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

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
Qiao Y, Liu X, Harvard C, et al. Autism-associated familial microdeletion of Xp11.22. Clinical Genetics, 74: 134-144, 2008
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