| Disease ID | Source | Name | Description |
| 606407 | OMIM | Hypotonia-cystinuria syndrome (HCS) | Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. The gene represented in this entry is involved in disease pathogenesis. A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, PREPL, and SLC3A1, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate mental retardation and respiratory chain complex IV deficiency. |