| Metadata | |
|---|---|
| ID | DOID:0061138 |
| Name | complex cortical dysplasia with other brain malformations 9 |
| 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. https://pubmed.ncbi.nlm.nih.gov/30013181/ |
| Xrefs | |
| Synonyms |
CDCBM9 [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a complex cortical dysplasia with other brain malformations |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |