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Complete atrioventricular canal - ventricle hypoplasia
3 associated genes
No signs/symptoms info
COMMON GENES: 1
Pancreatic hypoplasia - diabetes - congenital heart disease
1 OMIM reference -
1 associated gene
1 sign/symptom
Complete atrioventricular canal - ventricle hypoplasia
Pancreatic hypoplasia - diabetes - congenital heart disease

CRELD1
(UniProt - OMIM)
 GATA6
(UniProt - OMIM)
GATA4
(UniProt - OMIM)
GATA6
(UniProt - OMIM)

COMMON
GENES 		GATA6


Citations in the biomedical literature:


Complete atrioventricular canal - ventricle hypoplasia
CRELD1 GATA4 GATA6
Pancreatic hypoplasia - diabetes - congenital heart disease



Complete atrioventricular canal - ventricle hypoplasia
Pancreatic hypoplasia - diabetes - congenital heart disease

Synonym(s):
- CAVC - ventricle hypoplasia
- CAVC type B
- Complete atrioventricular canal type B
Synonym(s):
- Yorifuji-Okuno syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Pancreatic hypoplasia - diabetes - congenital heart disease

Very frequent
- Stillbirth / neonatal death



Complete atrioventricular canal - ventricle hypoplasia

(no data available)