Term Name: brain small vessel disease 2
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 )

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