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Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

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ORPHA:177901

Classification level: Subtype of disorder

Prevalence: -

Inheritance: Autosomal dominant

Age of onset: Antenatal, Neonatal

ICD-10: Q87.1

ICD-11: LD90.3

OMIM: 615547

UMLS: C5680507

Summary

This disease is described under Prader-Willi syndrome

Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Svenska (2022) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2012.pdf) - Orphanet Urgences
Español (2012.pdf) - Orphanet Urgences
Italiano (2012.pdf) - Orphanet Urgences
Anesthesia guidelines
Deutsch (2012) - Orphananesthesia
English (2021) - Orphananesthesia
Español (2020) - Orphananesthesia
Čeština (2012) - Orphananesthesia
Clinical practice guidelines
English (2013) - J Clin Endocrinol Metab Logo ERN
English (2017) - J Clin Endocrinol Metab Logo ERN
Svenska (2023.pdf) - Nationellt programområde för sällsynta sjukdomar
Disease review articles
Review article
Clinical genetics review
English (2008.pdf) - Eur J Hum Genet
English (2024) - GeneReviews
Disability
Disability factsheet
Genetic testing
Guidance for genetic testing
English (2014) - Eur J Hum Genet
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