Cutis laxa with pulmonary, gastrointestinal and urinary anomalies
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 221145 | LTBP4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | C2750804 | LTBP4 | Causal Pathogenic evidence from ClinVar | 19836010, 22829427, 25882708 | ClinVar |