Term Name:	brain small vessel disease 1
Synonyms:	autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy, brain small vessel disease with Axenfeld-Riegar anomaly, brain small vessel disease with hemorrhage, brain small vessel disease with or without ocular anomalies, BSVD1, COL4A1-related brain small vessel disease with hemorrhage, COL4A1-related familial vascular leukoencephalopathy, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome, infantile hemiparesis, leukoencephalopathy with Axenfeld-Riegar anomaly
Definition:	A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.
Ontology:	Human Disease [DOID:0090125]   ( DOID:0090125 )