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GTR Home > Conditions/Phenotypes > Complex cortical dysplasia with other brain malformations 7

Complex cortical dysplasia with other brain malformations 7

Synonyms
Polymicrogyria, asymmetric
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDCBM7, PMGYSA, bA506K6.1, TUBB2B
    Summary: tubulin beta 2B class IIb

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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