Metadata | |
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ID | DOID:0112314 |
Name | brain small vessel disease 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. https://pubmed.ncbi.nlm.nih.gov/22209246/ |
Xrefs | |
Synonyms |
BSVD2 [EXACT] porencephaly 2 [EXACT] |
Parent Relationships |