ZFIN Human Disease: Warsaw breakage syndrome

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:	GARD:13708 OMIM:613398 ORDO:280558
Ontology:	Human Disease ( DOID:0060535 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Warsaw breakage syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DDX11	ddx11	Warsaw breakage syndrome	613398

ZEBRAFISH MODELS

Fish	Conditions	Citations
WT + MO1-ddx11	standard conditions	Sun et al., 2015
WT + MO2-ddx11	standard conditions	Sun et al., 2015

PHENOTYPE No data available

CITATIONS (2)