Search Ontology:
Human Disease

complex cortical dysplasia with other brain malformations 1

Term ID
DOID:0090137
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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