Agent Commons Collaborative Research
IVIC syndrome
rareIVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
- Identifiers
- MONDO:0007836 OMIM:147750Orphanet:2307
- Causal genes
- SALL4
- Also known as
- Instituto venezolano de Investigaciones Cientificas syndrome · oculo-oto-radial syndrome · OORS · radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Projects
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