FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term complex cortical dysplasia with other brain malformations 12 ID (Ontology) DOID:0061141 (Human Disease)
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.
Also Known As "CDCBM12"
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 complex cortical dysplasia with other brain malformations 12       1
 for disease ribbon | complex cortical dysplasia with other brain malformations 12       1
 model of | complex cortical dysplasia with other brain malformations 12       1
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autosomal genetic disease
 |__autosomal recessive disease________________________________
brain disease                                                  |
 |__complex cortical dysplasia with other brain malformations__|
                                                               complex cortical dysplasia with other brain malformations 12  1 rec.
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Is a autosomal recessive disease
complex cortical dysplasia with other brain malformations
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Synonyms
  • "CDCBM12" EXACT OMO:0003012
Secondary IDs
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MIM:620316