Ehlers-Danlos syndrome, cardiac valvular type

MONDO:0009159

A 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.

Also known as: COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type, EDS, cardiac valvular type, EDSCV, Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form, cardiac valvular form of Ehlers-Danlos syndrome, cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome, cardiac-valvular EDS, cardiac-valvular Ehlers-Danlos syndrome

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