Vici syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Absent corpus callosum cataract immunodeficiency | C1855772 | EPG5 | Causal Pathogenic evidence from ClinVar | 3344762, 23222957, 23674064, 25331754, 26395118, 26917586, 26927810, 27343256, 28168853, 28624465, 29130391 | ClinVar |
| Vici syndrome | 1493 | EPG5 | Causal Pathogenic evidence from ClinVar | - | ClinVar |