ODCs

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3 OMIM references -
3 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Isolated scaphocephaly

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency


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

Citations in the biomedical literature:

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

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		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 (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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