Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 1 with or without ocular anomalies
Definition
Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.
Also known as ADT1P, brain small vessel disease with axenfeld-rieger anomaly, brain small vessel disease with haemorrhage, brain small vessel disease with hemorrhage, brain small vessel disease with or without ocular anomalies, BSVD, BSVD1, COL4A1 porencephaly, COL4A1-related brain small vessel disease with haemorrhage, hemiplegia, infantile, with porencephaly, leukoencephalopathy with axenfeld-rieger anomaly, porencephaly 1, porencephaly caused by mutation in COL4A1, porencephaly type 1, retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant, T1P — per MONDO