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Metadata
ID DOID:0080508
Name Cornelia de Lange syndrome 4
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
Xrefs

OMIM:614701

Parent Relationships

is_a Cornelia de Lange syndrome

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