Kenny-caffey syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Autosomal dominant Kenny-Caffey syndrome | 93325 | FAM111A | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Kenny-Caffey syndrome | C0265291 | FAM111A | Causal Pathogenic evidence from ClinVar | 23684011 | ClinVar |
| TBCE | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Kenny-Caffey syndrome, type 2 | C4316787 | FAM111A | Causal Pathogenic evidence from ClinVar | 23684011, 23996431, 24635597 | ClinVar |
| TBCE | Causal Pathogenic evidence from ClinVar | 12389028 | ClinVar | ||
| Autosomal recessive Kenny-Caffey syndrome | 93324 | TBCE | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| KENNY-CAFFEY SYNDROME, TYPE 1 | C1855648 | TBCE | Causal Pathogenic evidence from ClinVar | 12389028, 16938882, 27666369 | ClinVar |