A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature an...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Connect with organizations supporting the Klinefelter syndrome community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
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Research studies investigating treatments and therapies for this condition.
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Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
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Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.