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1 OMIM reference -
1 associated gene
3 signs/symptoms
COMMON GENES: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Atrial septal defect - atrioventricular conduction defects
Hypoplastic left heart syndrome

NKX2-5 GJA1
NKX2-5


COMMON
GENES
NKX2-5



Citations in the biomedical literature:


Atrial septal defect - atrioventricular conduction defects
NKX2-5
Hypoplastic left heart syndrome
GJA1



Atrial septal defect - atrioventricular conduction defects
Hypoplastic left heart syndrome

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D018636

Atrial septal defect - atrioventricular conduction defects
Hypoplastic left heart syndrome

Very frequent
- Autosomal dominant inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac septal defect



Very frequent
- Hypoplastic left heart / ventricle
- Stillbirth / neonatal death

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication