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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02740 | Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities | ... abnormalities (CONRIBA) is a rare early-onset neurodegeneration caused by gain-of-function mutations in CLCN6. CLCN6 encodes a H(+)/Cl(-) exchanger that is predominantly found in late endosomes of the nervous ... | Nervous system disease | (CONRIBA) CLCN6 [HSA:1185] [KO:K05015] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |