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Praderovej-Williho syndróm
Č. záznamu d011218 Dátum 06.06.2025 Typ M - MESH Tematický termín Praderovej-Williho syndróm Iný termín Angličtina (Pseudonym) Labhart-Willi Syndrome
Angličtina (Pseudonym) Royer Syndrome
Slovenčina (Pseudonym) Labhartov-Williho syndróm
Slovenčina (Pseudonym) Labhart-Willi syndróm
Slovenčina (Pseudonym) Royerov syndróm
Slovenčina (Pseudonym) HHHO (hypotonia, hypomentia, hypogonadizmus, obesitas)
Slovenčina (Pseudonym) Prader-Willi syndróm
Pozri tiež (Skutočné meno) postihnutie intelektuálne
MDT C10.597.606.360.690C16.131.077.730C16.131.260.700C16.320.180.700C16.320.447.500C18.654.726.750.500.740 Poznámka 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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