Hypotonia-cystinuria syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Hypotonia-Cystinuria Syndrome | C1848030, 163690 | PPM1B | 26247364 |
| SLC3A1 | 16385448, 26247364 | ||
| PREPL | 26247364, 27604308, 24610330, 16385448 | ||
| CAMKMT | 26247364 | ||
| Atypical hypotonia-cystinuria syndrome | 238523 | SLC3A1 | |
| PREPL | |||
| CAMKMT |