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GTR Home > Conditions/Phenotypes > Cortical dysplasia, complex, with other brain malformations 10

Cortical dysplasia, complex, with other brain malformations 10

Summary

Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APCL, MRT74, APC2
    Summary: APC regulator of WNT signaling pathway 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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