Pierpont syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Pierpont syndrome | 487825 | TBL1XR1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Plantar Lipomatosis, Unusual Facies, and Developmental Delay | C1865644 | TBL1XR1 | Causal Pathogenic evidence from ClinVar | 9450851, 21834056, 23176139, 26769062, 30365874 | ClinVar |