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COL4A1/A2-related disorder
MONDO:1010150A 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.
Also known as: COL4A1/A2 syndrome, Gould syndrome
5 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Brain small vessel disease 1 with or without ocular anomalies
(3)
Brain small vessel disease 2A, autosomal dominant
(1)
COL4A1-related disorder
(1)
Hemorrhage, intracerebral, susceptibility to
(1)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
(0)
Familial schizencephaly
(0)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
(0)
Retinal arterial tortuosity
(0)