Term Name: brain small vessel disease 3
Synonyms: BSVD3
Definition: A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.
Ontology: Human Disease [DOID:0112315]   ( DOID:0112315 )

Relationships
is a type of: autosomal recessive disease brain small vessel disease