Term Name: | Warsaw breakage syndrome |
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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 ) |