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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02232 |
CAGSSS syndrome Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
... dysplasia (CAGSSS) is a very rare autosomal recessive disorder. It has been reported that mutations in IARS2 are associated with this disease. IARS2 encodes the mitochondrial isoleucine-tRNA synthetase. | Congenital malformation | IARS2 [HSA:55699] [KO:K01870] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |