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*Rett's syndrome
*Fragile X syndrome
*Alports Syndrome{{citation needed|date=May 2012}}
*Incontinentia pigmenti{{citation needed|date=May 2012}}
*Giuffrè–Tsukahara syndrome<ref name=Giuffrè>{{cite journal|last=Ashwin|first=B. Dalal|coauthors=Anujit Sarkar, T. Padma Priya, Madhusudan R. Nandineni|title=Giuffrè–Tsukahara syndrome: Evidence for X-linked dominant inheritance and review|journal=American Journal of Medical Genetics Part A|year=2010|volume=152A|issue=8|pages=2057–2060|doi=10.1002/ajmg.a.33505|accessdate=10 May 2012}}</ref>
*Charcot-Marie-Tooth disease<ref name=Neurology>{{cite journal|last=Yiu|first=E.M.|coauthors=N. Geevasinga, G.A. Nicholson, E.R. Fagan, M.M. Ryan, R.A. Ouvrier|title=A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood|journal=Neurology|date=1|year=2011|month=February|volume=76|issue=5|pages=461-466|doi=10.1212/WNL.0b013e31820a0ceb|accessdate=11 May 2012}}</ref>
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