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45,X/46,XY mixed gonadal dysgenesis

2 associated genes
No signs/symptoms info

COMMON GENES: 1

Testicular regression syndrome

1 OMIM reference -
1 associated gene
10 signs/symptoms

45,X/46,XY mixed gonadal dysgenesis

Testicular regression syndrome

SRY	(UniProt - OMIM)		SRY	(UniProt - OMIM)
TSPY1	(UniProt - OMIM)


COMMON GENES	SRY

Citations in the biomedical literature:

45,X/46,XY mixed gonadal dysgenesis		Testicular regression syndrome
	Synonym(s): - 45,X/46,XY MGD - 45,X0/46,XY MGD - 45,X0/46,XY mixed gonadal dysgenesis		Synonym(s): - ETRS - Embryonic testicular regression syndrome - TRS - Vanishing testes syndrome - Vanishing testis syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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

Testicular regression syndrome
	Very frequent - Ambiguous genitalia - Autosomal recessive inheritance - Late puberty / hypogonadism / hypogenitalism - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Male pseudohermaphrodism / lack of virilisation - Micropenis / small penis / agenesis - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies Occasional - Face / facial anomalies
45,X/46,XY mixed gonadal dysgenesis
(no data available)