Term Name: | complex cortical dysplasia with other brain malformations 11 |
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Synonyms: | CDCBM11 |
Definition: | A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. |
Ontology: | Human Disease [DOID:0061142] ( DOID:0061142 ) |