| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |