| Metadata | |
|---|---|
| ID | DOID:0070043 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070043 Copy |
| 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 14q32.31. https://www.ncbi.nlm.nih.gov/pubmed/21076407 |
| Xrefs | |
| Alternateids |
DOID:0061144 |
| Synonyms |
autosomal dominant intellectual developmental disorder 13 [EXACT] autosomal dominant mental retardation 13 [EXACT] autosomal dominant non-syndromic intellectual disability 13 [EXACT] CDCBM13 [EXACT] mental retardation, autosomal dominant 13, with neuronal migration defects [EXACT] MRD13 [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 |