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GTR Home > Conditions/Phenotypes > Cortical dysplasia, complex, with other brain malformations 9

Cortical dysplasia, complex, with other brain malformations 9

Summary

Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAP-R, CAPR, CDCBM9, CT114, CTNR, CTNNA2
    Summary: catenin alpha 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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