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Prader-Willi syndrome
rarePrader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.
- Identifiers
- MONDO:0008300 OMIM:176270Orphanet:739
- Part of
- Mendelian neurodevelopmental disorderChromosomal disorderComplex neurodevelopmental disorderCongenital hypogonadotropic hypogonadismCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeSyndromic disease
- Also known as
- obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet · obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet · Prader-Labhart-Willi syndrome · Prader-Willi-Labhart syndrome · PWS
Subtypes
Rare disease
Projects
Including projects on subtypes.
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