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brain small vessel disease 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease brain small vessel disease
External Links
- Disease Ontology
- DOID:0112314
- Mondo Disease Ontology
- OMIM
