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Cyprus facial-neuromusculoskeletal syndrome

Disease Summary
Associated Targets ()

Mondo Description Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
Mondo Term and Equivalent IDs
MONDO:0007413:  Cyprus facial-neuromusculoskeletal syndrome
GARD:0009487: 
MESH:C536229: 
Orphanet:2674: 
SCTID:732261005: 
UMLS:C1852396: