Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY | C4310720 | IARS1 | Causal Pathogenic evidence from ClinVar | 27426735, 29052218, 29903433 | ClinVar |