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GTR Home > Conditions/Phenotypes > Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome

Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome

Summary

Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017). [from OMIM]

Available tests

21 tests are in the database for this condition.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDS4A, EDSVASC, PMGEDSV, COL3A1
    Summary: collagen type III alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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