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Human Disease

complex cortical dysplasia with other brain malformations 7

Term ID
DOID:0090132
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. (3)
References
Ontology
Human Disease   ( DOID:0090132 )
Relationships
is a type of
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Genes Involved
Zebrafish Models