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 )

Relationships
is a type of: autosomal recessive disease syndrome