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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02236 | Keppen-Lubinsky syndrome | ... reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, which encodes an inwardly rectifying potassium channel. | Inherited metabolic disorder | KCNJ6 [HSA:3763] [KO:K05000] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |