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Metadata
ID DOID:0060535
Name Warsaw breakage syndrome
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.
https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/20137776, https://www.ncbi.nlm.nih.gov/pubmed/21490908, https://www.ncbi.nlm.nih.gov/pubmed/23033317, https://www.ncbi.nlm.nih.gov/pubmed/26089203, https://www.ncbi.nlm.nih.gov/pubmed/31169992
Xrefs

GARD:13708

OMIM:613398

ORDO:280558

Synonyms

WABS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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