Cornelia de Lange syndrome 2

Term ID

DOID:0080506

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. https://www.ncbi.nlm.nih.gov/pubmed/22106055

References

• OMIM:300590

Ontology

Human Disease   ( DOID:0080506 )