| Term Name: | Warsaw breakage syndrome |
|---|---|
| Synonyms: | WABS |
| 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. |
| Ontology: | Human Disease [DOID:0060535] ( DOID:0060535 ) |