ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
7 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Isolated trigonocephaly

CREBBP	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
			FREM1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.67)	FGFR1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Isolated trigonocephaly
	Synonym(s): (no synonyms)		Synonym(s): - Non-syndromic metopic craniosynostosis

	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: 1-9 / 100 000 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: 2 OMIM references - No MeSH references

Isolated trigonocephaly
	Very frequent - Autosomal dominant inheritance - Trigonocephaly Frequent - Broad nasal root - Hypotelorism - Prominent supraorbital ridge - Synophris / synophrys Occasional - Omphalocele / exomphalos
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)