Cornelia de Lange syndrome 4

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Information
Disease name
Cornelia de Lange syndrome 4
Disease ID
DOID:0080508
Description
"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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22633399]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:11725
Cross Reference ID (Disease Ontology)
MIM:614701
Exact Synonym (Disease Ontology)
CDLS4
Exact Synonym (Disease Ontology)
Cornelia De Lange syndrome 4 with or without midline brain defects