ODCs

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

PROTEIN INTERACTIONS: 1

2 associated genes
No signs/symptoms info

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

45,X/46,XY mixed gonadal dysgenesis

EP300	(UniProt - OMIM)		SRY	(UniProt - OMIM)
			TSPY1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		45,X/46,XY mixed gonadal dysgenesis
	Synonym(s): (no synonyms)		Synonym(s): - 45,X/46,XY MGD - 45,X0/46,XY MGD - 45,X0/46,XY mixed gonadal dysgenesis

	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: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic

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

No signs/symptoms info available.