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RIDDLE syndrome
Summary
- Synonym
-
- RNF168 deficiency
- Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
- Definition
- A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090113
- Mondo Disease Ontology
- MeSH
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IYW5 | E3 ubiquitin-protein ligase RNF168 |
