brain small vessel disease 2 (DOID:0112314)
Alliance: disease page
Synonyms: BSVD2; porencephaly 2
Alt IDs: OMIM:614483
Definition: A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.