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Warsaw breakage syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060535
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09874 | Poly [ADP-ribose] polymerase 1 |
