46,XY SEX REVERSAL 2

General Information (adopted from Orphanet):

Synonyms, Signs: DOSAGE-SENSITIVE SEX REVERSAL
46,XY SEX REVERSAL, DAX1-RELATED
DSS
SRXY2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300018
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
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 46,XY karyotype 2 / 7739
3
(OMIM) Male-to-female sex reversal 1 / 7739
4
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The existence of an X-specific gene involved in human sex determination was first postulated by German et al. (1978), on the basis of a family with an apparent X-linked mode of inheritance of 46,XY gonadal dysgenesis. A number ...
Molecular genetics OMIM Bardoni et al. (1994) identified a locus on the X chromosome which, when present in duplicate, resulted in male-to-female sex reversal. Alterations at this locus, in a 160-kb region of Xp21 adjacent to the congenital adrenal hypoplasia locus ...