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Start free with EleplanPrader-Willi syndrome due to paternal 15q11q13 deletion
ORPHA:98793Etiological 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
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Europe)Prader-Willi syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
49- Abnormality of vision
- Abnormal temper tantrums
- Almond-shaped palpebral fissure
- Anterior pituitary hypoplasia
- Atypical behavior
- Autism
- Autistic behavior
- Bulimia
- Central adrenal insufficiency
- Central hypothyroidism
- Clitoral hypoplasia
- Decreased circulating gonadotropin level
- Decreased circulating thyroxine level
- Decreased response to growth hormone stimulation test
- Decreased testicular size
- Delayed puberty
- Diabetes mellitus
- External genital hypoplasia
- Failure to thrive
- Global developmental delay
- Hypogonadotropic hypogonadism
- Hypopigmentation of hair
- Hypopigmentation of the skin
- Hypoplastic labia minora
- Hypotonia
- Infertility
- Intellectual disability, moderate
- Iris hypopigmentation
- Obsessive-compulsive trait
- Occipital cortical atrophy
- Parietal cortical atrophy
- Perisylvian polymicrogyria
- Polyphagia
- Premature adrenarche
- Premature pubarche
- Primary amenorrhea
- Psychosis
- Recurrent respiratory infections
- Scoliosis
- Self-injurious behavior
- Short foot
- Short stature
- Skin-picking
- Sleep abnormality
- Small hand
- Small scrotum
- Specific learning disability
- Speech articulation difficulties
- Strabismus
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 reported in subtypes
Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
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
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
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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