| Metadata | |
|---|---|
| ID | DOID:0060535 | 
| Name | Warsaw breakage syndrome | 
| Definition | A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.  https://www.ncbi.nlm.nih.gov/pubmed/21490908, https://www.ncbi.nlm.nih.gov/pubmed/20137776, https://www.ncbi.nlm.nih.gov/pubmed/26089203, https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23033317, https://www.ncbi.nlm.nih.gov/pubmed/31169992  | 
			    
                        
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                                             DO_rare_slim  | 
                        
| Synonyms | 
                                
                                    
                                         WABS [EXACT]  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a syndrome  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |