Term Name: | Cornelia de Lange syndrome 4 |
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Synonyms: | CDLS4, Cornelia De Lange syndrome 4 with or without midline brain defects |
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. |
Ontology: | Human Disease [DOID:0080508] ( DOID:0080508 ) |