| Disease ID | Source | Name | Description |
| 614098 | OMIM | Keppen-Lubinsky syndrome (KPLBS) | A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance. The disease is caused by variants affecting the gene represented in this entry. |