brain small vessel disease 4

Term ID

DOID:0061234

Synonyms

Definition

A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive decline that has_material_basis_in homozygous or compound heterozygous mutation in the NIT1 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/38430071/

References

• MIM:621313

Ontology

Human Disease   ( DOID:0061234 )