Warsaw breakage syndrome
Information
- Disease name
- Warsaw breakage syndrome
- Disease ID
- DOID:0060535
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20137776, url:https\://www.ncbi.nlm.nih.gov/pubmed/21490908, url:https\://www.ncbi.nlm.nih.gov/pubmed/23033317, url:https\://www.ncbi.nlm.nih.gov/pubmed/26089203, url:https\://www.ncbi.nlm.nih.gov/pubmed/31169992]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:13708
- Cross Reference ID (Disease Ontology)
- MIM:613398
- Cross Reference ID (Disease Ontology)
- ORDO:280558
- Exact Synonym (Disease Ontology)
- WABS