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Kenny-Caffey syndrome type 1
Summary
- Definition
- A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
- Super Class
- Kenny-Caffey syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080722
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15813 | Tubulin-specific chaperone E |
