Fixed subaortic stenosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 2
OrphanetNr: 3092
OMIM Id: 271950
ICD-10: Q24.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: No data available
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Aortic malformation
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0001682) Subaortic stenosis 17 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: