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Definition

A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma.

Acronym

POREN1

Synonyms

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

 
Disclaimer

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