eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lowe syndrome |
| Comorbidity | C0022658|renal disease |
| Sentences | 1 |
| PubMedID- 21901156 | Ocrl1 is mutated in patients with the oculocerebrorenal disease of lowe, also called lowe syndrome, which is dominated by congenital bilateral cataracts, severe mental retardation, and proximal renal tubulopathy, which progresses to renal failure. |
Page: 1