Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060535 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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