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porencephaly 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.
Uniprot Description A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles.
Mondo Term and Equivalent IDs
MONDO:0013773:  porencephaly 2
UMLS:C3280970: