ODCs

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

PROTEIN INTERACTIONS: 2

3 OMIM references -
3 associated genes
5 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

46,XX testicular disorder of sex development


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 testicular disorder of sex development
	Synonym(s): (no synonyms)		Synonym(s): - 46,XX testicular DSD - De la Chapelle syndrome - XX, male syndrome

	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 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: (no data available)

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

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
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)