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ZIRC
OBO ID: DOID:0060535
Term Name: Warsaw breakage syndrome Search Ontology:
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)
OTHER Warsaw breakage syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DDX11 Warsaw breakage syndrome 613398
PHENOTYPE No data available

CITATIONS (1)