Search Ontology:
Human Disease

complex cortical dysplasia with other brain malformations 10

Term ID
DOID:0061143
Synonyms
  • CDCBM10
Definition
A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/31585108/
References
Ontology
Human Disease   ( DOID:0061143 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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