Cornelia de Lange syndrome 1

Term ID

DOID:0080505

Synonyms

Definition

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/20583156

References

• OMIM:122470

Ontology

Human Disease   ( DOID:0080505 )