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GTR Home > Conditions/Phenotypes > Porencephaly 2

Porencephaly 2

Synonyms
BRAIN SMALL VESSEL DISEASE 2

Summary

Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780). [from OMIM]

Available tests

46 tests are in the database for this condition.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BSVD2, ICH, POREN2, COL4A2
    Summary: collagen type IV alpha 2 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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