| Disease ID | Source | Name | Description |
| 618460 | OMIM | Khan-Khan-Katsanis syndrome (3KS) | An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. The disease is caused by variants affecting the gene represented in this entry. |