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Human Disease

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
Ontology
Human Disease   ( DOID:0080508 )
Relationships
is a type of
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Genes Involved
Zebrafish Models