The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).
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brain small vessel disease 1 with or without ocular anomalies
MONDO:0008289
retinal arterial tortuosity
MONDO:0008373
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
MONDO:0012726
porencephaly 2
MONDO:0013773
familial schizencephaly
MONDO:0018829
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
MONDO:0032814