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Ehlers-Danlos syndrome, cardiac valvular type
rareA form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
- Identifiers
- MONDO:0009159 OMIM:225320Orphanet:230851
- Also known as
- cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome · cardiac valvular form of Ehlers-Danlos syndrome · cardiac-valvular EDS · cardiac-valvular Ehlers-Danlos syndrome · COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type
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