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caudal appendage-deafness syndrome

Disease Summary
Associated Targets ()

Mondo Description Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
Mondo Term and Equivalent IDs
MONDO:0015233:  caudal appendage-deafness syndrome
GARD:0001163: 
MESH:C537713: 
Orphanet:1123: 
SCTID:726621009: 
UMLS:C2931593: