Cyprus facial-neuromusculoskeletal syndrome
Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
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MONDO:0020120
skeletal muscle disorder
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unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects
related