OBO ID: DOID:0090132
Term Name: complex cortical dysplasia with other brain malformations 7 Search Ontology:
Synonyms:
  • CDCBM7
  • polymicrogyria due to TUBB2B mutation
Definition: A complex cortical dysplasia with other brain malformations that is characterized by abnromalities 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:
  • GARD:10783
  • ICD10CM:Q04.3
  • OMIM:610031
  • ORDO:208444
  • ORDO:300573
Ontology: Human Disease   (DOID:0090132)
OTHER complex cortical dysplasia with other brain malformations 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUBB2B Cortical dysplasia, complex, with other brain malformations 7 610031
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None