| 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://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome, 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, https://www.ncbi.nlm.nih.gov/pubmed/31169992 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
WABS [EXACT] |
| Parent Relationships |
is_a syndrome |