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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
- OMIM
- GARD
