RS34004222 COL4A1
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Associated Conditions
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Optic nerve hypoplasia
Chronic kidney disease
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Optic nerve hypoplasia
Chronic kidney disease
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder
Other Variants in COL4A1