Gene

ABCC6

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

Gene

COL3A1

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

Gene

CHM

Pathology

Choroideremia

Gene

OAT

Pathology

Gyrate atrophy of choroid and retina.

Gene

USH1C

Pathology

Usher syndrome.

Gene

APC

Pathology

Familial adenomatous polyposis.

Gene

COL2A1

Pathology

Stickler syndrome.