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Echinobase
Summary Literature (0)
DOID:0060535 - Warsaw breakage syndrome

Disease Ontology 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.

Synonyms: WABS

Echinobase Genes : ddx11


MIM:
MIM:613398 - warsaw breakage syndrome; wabs

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)