Warsaw breakage syndrome (DOID:0060535)
Alliance: disease page
Synonyms: WABS
Alt IDs: OMIM:613398, ORDO:280558
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.