Warsaw breakage syndrome

Term ID

DOID:0060535

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. (6)

References

• GARD:13708
• OMIM:613398
• ORDO:280558

Ontology

Human Disease   ( DOID:0060535 )