DISEASES

Disease-gene associations mined from literature

Human genes for Warsaw breakage syndrome

Warsaw breakage syndrome [DOID:0060535]

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.

Synonyms:  Warsaw breakage syndrome,  DOID:0060535,  Warsaw breakage disease,  Warsaw breakage disorder,  Warsaw breakage syndromes ...