Search Ontology:
Human Disease
complex cortical dysplasia with other brain malformations 7
- Term ID
- DOID:0090132
- Synonyms
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- 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. (3)
- References
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- MIM:610031
- ORDO:300573
- Ontology
- Human Disease ( DOID:0090132 )
- is a type of
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Genes Involved
Zebrafish Models