| Metadata | |
|---|---|
| ID | DOID:0080508 |
| Name | Cornelia de Lange syndrome 4 |
| Definition | A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. https://www.ncbi.nlm.nih.gov/pubmed/22633399 |
| Xrefs | |
| Synonyms |
CDLS4 [EXACT] Cornelia De Lange syndrome 4 with or without midline brain defects [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |