autosomal dominant brain small vessel disease 2A

info · Genetic

A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.

Signs and symptoms

Spastic tetraplegia
Global developmental delay
Schizencephaly
Subcortical heterotopia
Growth delay
Polymicrogyria
Bilateral tonic-clonic seizure
Porencephalic cyst
Intracranial hemorrhage
Ventriculomegaly

Also known as: BSVD2; porencephaly 2