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Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
ORPHA:98754
Classification level: Subtype of disorderSummary
This disease is described under Prader-Willi syndrome
Detailed information
General public
- Article for general public
- English (2012) - Socialstyrelsen
- Français (2013, pdf) - Orphanet
- Svenska (2015) - Socialstyrelsen
Guidelines
- Emergency guidelines
- Français (2012, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Deutsch (2010) - AWMF
- English (2013) - J Clin Endocrinol Metab
- English (2017) - J Clin Endocrinol Metab
- Français (2021) - PNDS
- Anesthesia guidelines
- Deutsch (2012) - Orphananesthesia
- Czech (2012) - Orphananesthesia
- English (2021) - Orphananesthesia
- Español (2021) - Orphananesthesia
Disease review articles
- Review article
- Español (2015, pdf) - CIBERER
- Clinical genetics review
- English (2008, pdf) - Eur J Hum Genet
- English (2023) - GeneReviews
Disability
- Disability factsheet
- Français (2013, pdf) - Orphanet
- Español (2017, pdf) - Orphanet
Genetic Testing
- Guidance for genetic testing
- English (2014) - Eur J Hum Genet


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.