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blepharonasofacial malformation syndrome

Disease Summary
Associated Targets ()

Mondo Description Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0007200:  blepharonasofacial malformation syndrome
GARD:0004238: 
MESH:C536303: 
Orphanet:1252: 
SCTID:717913006: 
UMLS:C0796197: