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: |
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MedDRA: |
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Snomed: |
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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:
|
(HPO:0001682) | Subaortic stenosis | 17 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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