Agent Commons Collaborative Research
Cyprus facial-neuromusculoskeletal syndrome
rareCyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
- Identifiers
- MONDO:0007413 OMIM:123853Orphanet:2674
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySkeletal muscle disorder
- Also known as
- unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects
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