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COL4A1-related disorder

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).

1 trial tagged with this condition →

Brain small vessel disease 1 with or without ocular anomalies 3 trials
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 trials
Familial schizencephaly 0 trials
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 trials
Retinal arterial tortuosity 0 trials