| Metadata | |
|---|---|
| ID | DOID:0061144 |
| Name | complex cortical dysplasia with other brain malformations 13 |
| 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. https://pubmed.ncbi.nlm.nih.gov/23603762/ |
| Xrefs | |
| Synonyms |
CDCBM13 [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 |