Other terms
Prader Willi Syndrome,Syndrome, Prader-Willi,Labhart-Willi-Prader-Fanconi Syndrome,Labhart Willi Prader Fanconi Syndrome,Syndrome, Labhart-Willi-Prader-Fanconi,Willi-Prader Syndrome,Syndrome, Willi-Prader,Willi Prader Syndrome,Labhart-Willi Syndrome,Labhart Willi Syndrome,Syndrome, Labhart-Willi,Prader Labhart Willi Syndrome,Royer Syndrome,Syndrome, Royer,Royer's Syndrome,Royers Syndrome,Syndrome, Royer's
Description
Prader-Willi Syndrome: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
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