| LC control no. | sh 85106050 |
|---|---|
| LC classification | RJ520.P7 |
| Topical heading | Prader-Willi syndrome |
| Variant(s) | Labhart-Willi syndrome Labhart-Willi-Prader syndrome Labhart-Willi-Prader-Franconi syndrome Prader Labhart Willi syndrome Royer syndrome Royer's syndrome Willi-Prader syndrome |
| See also | Human chromosome 15--Abnormalities Intellectual disability Obesity Syndromes |
| Found in | Inter. dict. med. biol.: p. 2813 (Prader-Willi syndrome. Also called Prader-Labhart-Willi syndrome) 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) |
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