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GTR Home > Conditions/Phenotypes > Polymicrogyria, bilateral perisylvian, autosomal recessive

Polymicrogyria, bilateral perisylvian, autosomal recessive

Synonyms
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14B (BILATERAL PERISYLVIAN)

Summary

Complex cortical dysplasia with other brain malformations-14B (CDCBM14B) is an autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have variable intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BFPP, BPPR, CDCBM14B, CDCBM15A, GPR56, TM7LN4, TM7XN1, ADGRG1
    Summary: adhesion G protein-coupled receptor G1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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