OBO ID: DOID:0090137
Term Name: complex cortical dysplasia with other brain malformations 1 Search Ontology:
Synonyms:
  • CDCBM1
  • cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Definition: A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. (3)
References:
Ontology: Human Disease   ( DOID:0090137 )
Relationships
is a type of:
OTHER complex cortical dysplasia with other brain malformations 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUBB3 Cortical dysplasia, complex, with other brain malformations 1
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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