Search Ontology:
Human Disease

complex cortical dysplasia with other brain malformations 12

Term ID
DOID:0061141
Synonyms
  • CDCBM12
Definition
A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/36283405/
References
Ontology
Human Disease   ( DOID:0061141 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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