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Human Disease

complex cortical dysplasia with other brain malformations 11

Term ID
DOID:0061142
Synonyms
  • CDCBM11
Definition
A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/36228617/
References
Ontology
Human Disease   ( DOID:0061142 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models