Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Nervous System Diseases
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Término preferido
Prader-Willi Syndrome
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Tipo
-
mesh:Descriptor
Definición
- 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) An association of DIABETES MELLITUS with Prader-Willi Syndrome.
Concepto genérico
Etiquetas alternativas
- Labhart-Willi Syndrome
- Labhart-Willi-Prader-Fanconi Syndrome
- Prader Labhart Willi Syndrome
- Prader-Labhart-Willi Syndrome
- Willi-Prader Syndrome
En otras lenguas
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francés
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SPW (Syndrome de Prader-Willi)
-
Syndrome de Prader-Labhart-Willi
URI
http://data.loterre.fr/ark:/67375/JVR-K6WT37LH-3
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