46,XX SEX REVERSAL 3

General Information (adopted from Orphanet):

Synonyms, Signs: SRXX3
CHROMOSOME Xq26 DUPLICATION SYNDROME
46,XX SEX REVERSAL, SOX3-RELATED CHROMOSOME Xq26 DELETION SYNDROME, INCLUDED
Number of Symptoms 3
OrphanetNr:
OMIM Id: 300833
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012245) Sex reversal 13 / 7739
2
(OMIM) Normal-appearing male external genitalia in 46,XX individuals 1 / 7739
3
(HPO:0001423) X-linked dominant inheritance 69 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sutton et al. (2011) studied 3 46,XX SRY (480000)-negative male sex reversal patients. Patient 'A' was a male of European descent who presented at age 30 years for evaluation of infertility, which was confirmed by azoospermia on 2 ...
Molecular genetics OMIM Sutton et al. (2011) screened a cohort of 16 SRY (480000)-negative 46,XX male patients for copy number variation (CNV) and identified rearrangements encompassing or in close proximity to the SOX3 gene in 3 patients. Patient A had tandem ...