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GTR Home > Conditions/Phenotypes > Bilateral frontoparietal polymicrogyria

Bilateral frontoparietal polymicrogyria

Synonyms
CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL)

Summary

Complex cortical dysplasia with other brain malformations-14A (CDCBM14A) is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence. Additional features may include strabismus, nystagmus, exo- or esotropia, axial hypotonia, and spasticity. Brain imaging shows bilateral frontoparietal polymicrogyria, a frontal-predominant cobblestone malformation of the cortex, scalloping of the cortical/white matter junction, enlarged ventricles, and hypoplasia of the pons, brainstem, and cerebellum. The disorder can be classified as a malformation of cortical development (summary by Parrini et al., 2009; Luo et al., 2011; Zulfiqar et al., 2021). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Available tests

59 tests are in the database for this condition.

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Clinical tests (59 available)

Biochemical Genetics Tests

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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