Term Name: | complex cortical dysplasia with other brain malformations 13 |
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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. |
Ontology: | Human Disease [DOID:0061144] ( DOID:0061144 ) |