| Disease ID | Source | Name | Description |
| 602342 | OMIM | Pierpont syndrome (PRPTS) | An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling. The disease is caused by variants affecting the gene represented in this entry. |
| 616944 | OMIM | Mental retardation, autosomal dominant 41 (MRD41) | A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients. The disease is caused by variants affecting the gene represented in this entry. |