46,XY sex reversal 5
- Synonyms
- 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED; 46,XY SEX REVERSAL, CBX2-RELATED; DISORDER OF SEX DEVELOPMENT, 46,XY, CBX2-RELATED; SEX REVERSAL, XY, CBX2-RELATED
Available tests
14 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (14 available)
Genes See tests for all associated and related genes
Also known as: CDCA6, M33, SRXY5, CBX2
Summary: chromobox 2
Clinical features
Help- Abnormality of the endocrine system
- Abnormal circulating luteinizing hormone concentration
Abnormal circulating luteinizing hormone concentration
- MedGen UID: 663319
- Concept ID: C0580438
- Finding: Finding
Abnormality of the endocrine system
- Abnormality of circulating cortisol level
Abnormality of circulating cortisol level
- MedGen UID: 868804
- Concept ID: C4023214
- Finding: Finding
Abnormality of the endocrine system
- Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level
- MedGen UID: 867192
- Concept ID: C4021550
- Finding: Finding
Abnormality of the endocrine system
- Abnormal circulating luteinizing hormone concentration
- Abnormality of the genitourinary system
- Abnormal female external genitalia morphology
Abnormal female external genitalia morphology
- MedGen UID: 867445
- Concept ID: C4021822
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Sex reversal
Sex reversal
- MedGen UID: 868596
- Concept ID: C4022995
- Finding: Finding
Abnormality of the genitourinary system
- Abnormal female external genitalia morphology
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