Term Name: | brain small vessel disease 2 |
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Synonyms: | BSVD2, porencephaly 2 |
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. |
Ontology: | Human Disease [DOID:0112314] ( DOID:0112314 ) |