Search Ontology:
Human Disease

complex cortical dysplasia with other brain malformations 13

Term ID
DOID:0061144
Synonyms
  • CDCBM13
Definition
A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/23603762/
References
Ontology
Human Disease   ( DOID:0061144 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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