Rare Disease Library

Usher syndrome type 3

USH3

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5