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Partial atrioventricular canal

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Isolated scaphocephaly

3 OMIM references -
3 associated genes
5 signs/symptoms

Partial atrioventricular canal

Isolated scaphocephaly

CRELD1	(UniProt - OMIM)		ALX4	(UniProt - OMIM)
GATA4	(UniProt - OMIM)		ERF	(UniProt - OMIM)
			TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GATA4	(0.63)	ALX4

Citations in the biomedical literature:

Partial atrioventricular canal		Isolated scaphocephaly
	Synonym(s): (no synonyms)		Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare surgical cardiac 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: No OMIM references 1 MeSH reference: C536112		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
Partial atrioventricular canal
(no data available)