Search Ontology:
Human Disease

complex cortical dysplasia with other brain malformations 9

Term ID
DOID:0061138
Synonyms
  • CDCBM9
Definition
A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. https://pubmed.ncbi.nlm.nih.gov/30013181/
References
Ontology
Human Disease   ( DOID:0061138 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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