Cornelia de Lange syndrome 4

Term ID

DOID:0080508

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. https://www.ncbi.nlm.nih.gov/pubmed/22633399

References

• OMIM:614701

Ontology

Human Disease   ( DOID:0080508 )