| Metadata | |
|---|---|
| ID | DOID:0090133 |
| Name | complex cortical dysplasia with other brain malformations 2 |
| Definition | A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. https://www.ncbi.nlm.nih.gov/books/NBK350554/, https://www.omim.org/entry/615282, https://www.ncbi.nlm.nih.gov/pubmed/29048727 |
| Xrefs | |
| Synonyms |
CDCBM2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a complex cortical dysplasia with other brain malformations |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |