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Prader-Willi syndrome

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Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

ORPHA:177904Etiological subtype

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Antenatal, Neonatal
Inheritance
Autosomal dominant
Classified as
Etiological subtype

Signs and symptoms

Common30–79%

45

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

MAGEL2Role in the phenotype of
NDNRole in the phenotype of
OCA2Role in the phenotype of
SNORD115@Role in the phenotype of
SNORD116@Role in the phenotype of
SNRPNRole in the phenotype of

ICD-10 codes

Q87.1filed under a broader ICD-10 category — shared with 107 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Marfan SyndromePrader-Willi Syndrome

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0015784OMIM 615547UMLS C5680508

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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