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Praderovej-Williho syndróm

  1. Subject h.Praderovej-Williho syndróm
    Subject h.Prader-Willi Syndrome
    Entry termsLabhartov-Williho syndróm
    Labhart-Willi syndróm
    Royerov syndróm
    HHHO (hypotonia, hypomentia, hypogonadizmus, obesitas)
    Prader-Willi syndróm
    English X referencesLabhart-Willi Syndrome
    Royer Syndrome
    Scope note in EnglishAn 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)
    See also reference (FX) in Slovak postihnutie intelektuálne
    See also reference (FX) in English Intellectual Disability
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Number of the records: 1  

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