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Metadata
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

MIM:614483

Synonyms

BSVD2 [EXACT]

porencephaly 2 [EXACT]

Parent Relationships

is_a brain small vessel disease

is_a autosomal dominant disease

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