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Definition

An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid-filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies.

Acronym

BSVD1

Synonyms

ADT1P
Hemiplegia infantile with porencephaly type 1
POREN1
Porencephaly 1
Porencephaly type 1
Porencephaly type 1 autosomal dominant
T1P

 
Disclaimer

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