Term Name: | Cornelia de Lange syndrome 3 |
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Synonyms: | CDLS3, Cornelia De Lange syndrome 3 with or without midline brain defects |
Definition: | A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. |
Ontology: | Human Disease [DOID:0080507] ( DOID:0080507 ) |