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Start free with Eleplan45,X/46,XY mixed gonadal dysgenesis
ORPHA:1772Malformation syndrome
Also called 45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY mixed gonadal dysgenesis
What it is
A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome.
Key facts
- Age of onset
- All ages
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
4Common30–79%
12Sometimes5–29%
44- Abnormal cardiovascular system morphology
- Abnormality of the kidney
- Abnormality of the scrotum
- Autistic behavior
- Bicuspid aortic valve
- Bifid scrotum
- Cervix cancer
- Chordee
and 36 more in this range
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.
Gene
ICD-10 codes
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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