[Börjeson-Forssman-Lehmann syndrome].
Kubota
Takeo
T
Department of Epigenetic Medicine, Faculty of Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D009765:Obesity / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D011379:Prognosis; D012097:Repressor Proteins; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
D002352:Carrier Proteins; C502542:PHF6 protein, human; D012097:Repressor Proteins