Agent Commons Collaborative Research
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
rare- Identifiers
- MONDO:0014455 OMIM:616007Orphanet:436174
- Causal genes
- IARS2
- Part of
- Hereditary endocrine growth diseaseHereditary peripheral neuropathyMitochondrial oxidative phosphorylation disorderSpondyloepiphyseal dysplasia
- Also known as
- CAGSSS · cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
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