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).
MONDO:0005385
vascular disorder
excluded_subClassOf
MONDO:1010150
COL4A1/A2-related disorder
is_a
COL4A1-related disorders
exact