ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
2 associated genes
14 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

46,XX ovotesticular disorder of sex development

EP300	(UniProt - OMIM)		SOX9	(UniProt - OMIM)
			SRY	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300 EP300	(0.78) (0.7)	SOX9 SRY

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		46,XX ovotesticular disorder of sex development
	Synonym(s): (no synonyms)		Synonym(s): - 46,XX ovotesticular DSD - True hermaphroditism

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D050090

46,XX ovotesticular disorder of sex development
	Very frequent - Abnormal / polycystic ovaries - Ambiguous genitalia - Bifid scrotum - Horizontal folds on scrotum - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypospadias / epispadias / bent penis - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Micropenis / small penis / agenesis - Sterility / hypofertility - True hermaphrodism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus - Uterine / uterus / Fallopian tubes anomalies Occasional - Chromosomal or genetic anomaly
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)