ODCs

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
5 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Isolated scaphocephaly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.79)	TWIST1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Isolated scaphocephaly
	Synonym(s): (no synonyms)		Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis

	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 bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Isolated scaphocephaly
	Very frequent - Dolichocephaly / scaphocephaly Occasional - Autosomal dominant inheritance - Cranial hypertension - Frontal bossing / prominent forehead - Prominent occiput / occipital bossing
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)