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3 OMIM references -
3 associated genes
5 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
46,XX testicular disorder of sex development
X-linked congenital generalized hypertrichosis

SOX3 SOX3
SOX9
SRY


COMMON
GENES
SOX3



Citations in the biomedical literature:


46,XX testicular disorder of sex development
SOX3 SOX9 SRY
X-linked congenital generalized hypertrichosis



46,XX testicular disorder of sex development
X-linked congenital generalized hypertrichosis

Synonym(s):
- 46,XX testicular DSD
- De la Chapelle syndrome
- XX, male syndrome

Synonym(s):
- Congenital generalized hypertrichosis, Macias-Flores type
- Macias Flores-Garcia Cruz-Rivera syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
3 OMIM references -
1 MeSH reference: D058531
External references:
1 OMIM reference -
No MeSH references

46,XX testicular disorder of sex development

Very frequent
- Abnormal / polycystic ovaries
- Ambiguous genitalia
- Late puberty / hypogonadism / hypogenitalism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



X-linked congenital generalized hypertrichosis

(no data available)