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short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Disease Summary
Associated Targets ()

Mondo Description Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).
Mondo Term and Equivalent IDs
MONDO:0017316:  short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
GARD:0004841: 
Orphanet:2866: 
SCTID:716192009: