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GTR Home > Conditions/Phenotypes > Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures

Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures

Synonyms
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15

Summary

Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALP4, GCP-2, GCP2, Grip103, PAMDDFS, SPBC97, SPC97, Spc97p, h103p, hGCP2, hSpc97, TUBGCP2
    Summary: tubulin gamma complex component 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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