Browse result page of RareLSD
The total number entries retrieved from this search are 6| Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
|---|---|---|---|---|---|---|
| D_1092 | Lowe oculocerebrorenal syndrome | Dent Complex | nr | na | OCRL | na |
| D_1093 | Charcot-Marie-Tooth type 4J | Dent Complex | nr | na | FIG4 | na |
| D_1094 | Yunis-Varon syndrome | Dent Complex | nr | na | FIG4 | na |
| D_1095 | Bilateral temporooccipital polymicrogyria (BTOP) | Dent Complex | nr | na | FIG4 | na |
| D_1096 | X-linked hypercalciuric nephrolithiasis, Dent-1 | Dent Complex | nr | na | CLCN5 | na |
| D_1097 | Dent disease 2 | Dent Complex | nr | na | OCRL | na |