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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02292 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | ... developmental delays, learning disabilities and short stature. RDJCSS is caused by nonsense mutations in retinol dehydrogenase RDH11. In the eye, RDH11 has an oxidoreductive function in the visual cycle. | Congenital malformation | RDH11 [HSA:51109] [KO:K11152] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |