found: MeSH, June 12, 2018(Prader-Willi syndrome. Scope note: 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. Entry terms: Labhart-Willi Syndrome, Labhart-Willi-Prader-Fanconi Syndrome, Prader Labhart Willi Syndrome, Prader-Labhart-Willi Syndrome, Royer Syndrome, Royer's Syndrome, Willi-Prader Syndrome. Mapped to: Intellectual disability; Congenital abnormalities (Multiple); Chromosome disorders; Obesity)
