Term Name: | complex cortical dysplasia with other brain malformations 9 |
---|---|
Synonyms: | CDCBM9 |
Definition: | A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. |
Ontology: | Human Disease [DOID:0061138] ( DOID:0061138 ) |