Disorder "Genetic 46,XY disorder of sex development"
Found 1 record
Disorder information
Disorder name:
Genetic 46,XY disorder of sex development
Disoder ID:
Synonyms:
46,XY disorders of Sex development, 46,XY disorder of sex development, 46,XY differences of Sex development, 46,XY DSD, Genetic 46,XY DSD
Definition:
Differences of sex development in individuals with 46,XY karyotype.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered endocrine values(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TBX2 | TBX2:c.641A-G(p.N214S) | Expressivity | Altered endocrine values | Assessment of genotype–phenotype associations and gene activity study | TBX2 is a possible modifier of gonadal development in patients with NR5A1 mutations.more | more |
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