| Metadata | |
|---|---|
| ID | DOID:0080722 | 
| Name | Kenny-Caffey syndrome type 1 | 
| 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.  https://pubmed.ncbi.nlm.nih.gov/9806825/  | 
			    
                        
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	                             has material basis in some autosomal recessive inheritance  |