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DOID DOID:0060535
Name Warsaw breakage syndrome
Definition A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
https://www.ncbi.nlm.nih.gov/pubmed/20137776, https://www.ncbi.nlm.nih.gov/pubmed/21490908, https://www.ncbi.nlm.nih.gov/pubmed/23033317, https://www.ncbi.nlm.nih.gov/pubmed/26089203
Synonyms

WABS [EXACT]

Xrefs

OMIM:613398

ORDO:280558

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is_a syndrome

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