| Label | Id | |
|---|---|---|
| roifman-chitayat syndrome | C567641 | |
| combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay | C567641 | |
| facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay combined immunodeficiency | C567641 |