| Term Name: | Kenny-Caffey syndrome type 1 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0080722] ( DOID:0080722 ) |