Hypotonia, with psychomotor retardation and characteristic facies
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 | C3809454 | NALCN | Causal Pathogenic evidence from ClinVar | 23749988, 24075186 | ClinVar |
| HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 | C4225161 | TBCK | Causal Pathogenic evidence from ClinVar | 18541960, 23977024, 25529582, 25558065, 27040691, 27040692, 27275012, 27748029 | ClinVar |
| HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 | C4225203 | UNC80 | Causal Pathogenic evidence from ClinVar | 25529582, 26545877, 26708751, 26708753, 30167850 | ClinVar |