Term Name: | complex cortical dysplasia with other brain malformations 7 |
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Synonyms: | CDCBM7, polymicrogyria due to TUBB2B mutation |
Definition: | A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. |
Ontology: | Human Disease [DOID:0090132] ( DOID:0090132 ) |