Term Name: | Cornelia de Lange syndrome 2 |
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Synonyms: | |
Definition: | A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. |
Ontology: | Human Disease [DOID:0080506] ( DOID:0080506 ) |