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Features include always present findings: Mild intellectual disability, Posteriorly rotated ears, Pectus excavatum, and Low-set ears and others; and common findings: Epicanthus, Short stature, Low muscle tone (hypotonia), and Coarse facial features and others. 47 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Coarse facial features, High, narrow palate, Triangular face |
SPRED2 function has not been fully characterized.
Noonan syndrome 14 is associated with mutations in the SPRED2 gene on chromosome 2.
Genetic testing for SPRED2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Noonan syndrome 14 has been reported in the published literature.
Phenotype severity distribution: 9 always present features, 16 common features.
No clinical trials have been registered for Noonan syndrome 14.
43 publications have been identified in PubMed for Noonan syndrome 14. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (26%), and Basic Science / Preclinical (23%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 14 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC
Online Mendelian Inheritance in Man
Common questions about Noonan syndrome 14
Heart and blood vessels |
3 |
Aortic regurgitation, Thickened heart muscle (hypertrophic cardiomyopathy), Mitral valve prolapse |
Brain and nerves | 2 | Mild intellectual disability, Global developmental delay |
Skin | 2 | Dry skin, Excessive sweating (hyperhidrosis) |
Growth and development | 1 | Short stature |
Muscles | 1 | Low muscle tone (hypotonia) |
Bones and joints | 1 | Excessive outward curvature of the upper spine (kyphosis) |
11 |
26% |
Laboratory research | 10 | 23% |
Research summaries | 3 | 7% |
Clinical study results | 3 | 7% |
Testing and diagnosis research | 2 | 5% |
Zhang Z (2026). [PMID: 42051956](https://pubmed.ncbi.nlm.nih.gov/42051956/). *Front Pediatr*. [Case Report / Case Series]
Bukhari SI (2026). [PMID: 41445363](https://pubmed.ncbi.nlm.nih.gov/41445363/). *Expert Rev Hematol*. [Diagnostic / Biomarker]
Chen Z (2026). [PMID: 41786942](https://pubmed.ncbi.nlm.nih.gov/41786942/). *Eur Arch Otorhinolaryngol*. [Epidemiology / Natural History]
Martínez Rueda SC (2026). [PMID: 41988663](https://pubmed.ncbi.nlm.nih.gov/41988663/). *J Clin Res Pediatr Endocrinol*. [Epidemiology / Natural History]
Virta JM (2026). [PMID: 42048443](https://pubmed.ncbi.nlm.nih.gov/42048443/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Kocak Eker H (2026). [PMID: 41854160](https://pubmed.ncbi.nlm.nih.gov/41854160/). *Clin Genet*. [Basic Science / Preclinical]
Soomann M (2026). [PMID: 41177434](https://pubmed.ncbi.nlm.nih.gov/41177434/). *J Allergy Clin Immunol Pract*. [Diagnostic / Biomarker]
Friedrich RE (2026). [PMID: 41778246](https://pubmed.ncbi.nlm.nih.gov/41778246/). *Cancer Diagn Progn*. [Case Report / Case Series]
Kohanbash G (2026). [PMID: 41646294](https://pubmed.ncbi.nlm.nih.gov/41646294/). *Res Sq*. [Basic Science / Preclinical]
Basu R (2025). [PMID: 41255695](https://pubmed.ncbi.nlm.nih.gov/41255695/). *World J Clin Pediatr*. [Clinical Trial Publication]