Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include very common findings: Cryptorchidism, Obesity, Enlarged brain ventricles (ventriculomegaly), and Feeding difficulties in infancy; and common findings: Hypogonadotropic hypogonadism, Small scrotum, Clitoral hypoplasia, and Hypoplastic labia minora and others. 71 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 13 | Enlarged brain ventricles (ventriculomegaly), Atypical behavior, Psychosis |
Biomarker and diagnostic research for Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 has been reported in the published literature.
Phenotype severity distribution: 4 very common features, 49 common features.
No clinical trials have been registered for Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
42 publications have been identified in PubMed for Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1. Research spans Basic Science / Preclinical (26%), Review / Meta-Analysis (19%), and Case Report / Case Series (19%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 11 | 26% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Hormones | 10 | Hypogonadotropic hypogonadism, Primary amenorrhea, Infertility |
Digestive system | 3 | Feeding difficulties in infancy, Excessive hunger (polyphagia), Gastroparesis |
Growth and development | 3 | Decreased response to growth hormone stimulation test, Failure to thrive, Short stature |
Muscles | 3 | Low muscle tone (hypotonia), Parietal cortical atrophy, Occipital cortical atrophy |
Lungs and breathing | 3 | Recurrent respiratory infections, Obstructive sleep apnea, Central apnea |
Bones and joints | 3 | Sideways curvature of the spine (scoliosis), Mild bone density loss (osteopenia), Weak and brittle bones (osteoporosis) |
Eyes | 2 | Strabismus, Abnormality of vision |
Skin | 2 | Hypopigmentation of the skin, Skin-picking |
Arms and legs | 2 | Short foot, Small hand |
Blood and immune system | 1 | Recurrent respiratory infections |
Head and neck | 1 | Thin upper lip vermilion |
Pregnancy and birth | 1 | Decreased fetal movement |
Research summaries |
8 |
19% |
Patient case studies | 8 | 19% |
Disease patterns and progression | 7 | 17% |
Testing and diagnosis research | 5 | 12% |
Other research | 1 | 2% |
Clinical study results | 1 | 2% |
New treatment approaches | 1 | 2% |
Bham K (2026). [PMID: 42048351](https://pubmed.ncbi.nlm.nih.gov/42048351/). *PLoS One*. [Basic Science / Preclinical]
Faccioli N (2026). [PMID: 41451896](https://pubmed.ncbi.nlm.nih.gov/41451896/). *Obesity (Silver Spring, Md.)*. [Basic Science / Preclinical]
Tiwari SK (2026). [PMID: 41918032](https://pubmed.ncbi.nlm.nih.gov/41918032/). *Journal of medical case reports*. [Epidemiology / Natural History]
Wey AJ (2026). [PMID: 41659021](https://pubmed.ncbi.nlm.nih.gov/41659021/). *Journal of clinical orthopaedics and trauma*. [Review / Meta-Analysis]
Bazick HO (2026). [PMID: 41291049](https://pubmed.ncbi.nlm.nih.gov/41291049/). *Gene therapy*. [Gene Therapy / Novel Therapeutics]
Yang A (2026). [PMID: 41871994](https://pubmed.ncbi.nlm.nih.gov/41871994/). *Journal of obesity & metabolic syndrome*. [Basic Science / Preclinical]
Xu X (2026). [PMID: 41620187](https://pubmed.ncbi.nlm.nih.gov/41620187/). *Respiratory medicine*. [Epidemiology / Natural History]
Gnazzo M (2026). [PMID: 41669756](https://pubmed.ncbi.nlm.nih.gov/41669756/). *Neurology. Clinical practice*. [Diagnostic / Biomarker]
Łażewska D (2025). [PMID: 39757430](https://pubmed.ncbi.nlm.nih.gov/39757430/). *Expert opinion on therapeutic patents*. [Review / Meta-Analysis]
Dinoi E (2025). [PMID: 39996062](https://pubmed.ncbi.nlm.nih.gov/39996062/). *Frontiers in endocrinology*. [Case Report / Case Series]