brain small vessel disease 2

Term ID

DOID:0112314

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. https://pubmed.ncbi.nlm.nih.gov/22209246/

References

• OMIM:614483

Ontology

Human Disease   ( DOID:0112314 )