Prader-Willi Syndrome

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)

Also Known As:

Syndrome, Prader-Willi; Labhart Willi Syndrome; Labhart-Willi-Prader-Fanconi Syndrome; Prader Labhart Willi Syndrome; Prader-Labhart-Willi Syndrome; Royer's Syndrome; Willi-Prader Syndrome; Labhart Willi Prader Fanconi Syndrome; Prader Willi Syndrome; Royers Syndrome; Syndrome, Labhart-Willi; Syndrome, Labhart-Willi-Prader-Fanconi; Syndrome, Prader-Labhart-Willi; Syndrome, Royer; Syndrome, Royer's; Syndrome, Willi-Prader; Willi Prader Syndrome; Labhart-Willi Syndrome; Royer Syndrome

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Prader-Willi Syndrome: 1152
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Prader-Willi Syndrome: 1152
  - Chromosome Disorders: 136
    - Prader-Willi Syndrome: 1152
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Prader-Willi Syndrome: 1152
  - Imprinting Disorders: 60
    - Prader-Willi Syndrome: 1152
Nutritional and Metabolic Diseases: 15
- Nutrition Disorders: 404
  - Overnutrition: 616
    - Overweight: 21719
      - Obesity: 108607
        Prader-Willi Syndrome: 1152

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