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COL4A1/A2-related disorder
A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene.
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COL4A1-related disorder 1 trial · 4 incl. sub-types Sub-types →