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fountain syndrome

Disease Summary
Associated Targets ()

Mondo Description Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
Mondo Term and Equivalent IDs
MONDO:0009241:  fountain syndrome
GARD:0000064: 
MESH:C537270: 
Orphanet:3219: 
SCTID:720957007: 
UMLS:C0795944: