ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Uveal coloboma - cleft lip and palate - intellectual deficit


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.52)	YAP1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Uveal coloboma - cleft lip and palate - intellectual deficit

	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 genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Uveal coloboma - cleft lip and palate - intellectual deficit
	Very frequent - Autosomal dominant inheritance - Retinoschisis / retinal / chorioretinal coloboma - Sensorineural deafness / hearing loss Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cleft lip and palate - Coloboma of iris - Hematuria / microhematuria - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Embryotoxon - Glaucoma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ptosis - Retinal detachment - Strabismus / squint - Visual loss / blindness / amblyopia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)