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Prader-Willi syndrome

LC control 85106050
LC classificationRJ520.P7
Topical headingPrader-Willi syndrome
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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 alsoHuman chromosome 15--Abnormalities
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Intellectual disability
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    Browse this term in  LC Authorities
    Browse this term in  LC Authorities
Found inInter. 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)