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