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8q22.1 microdeletion syndrome

Disease Summary
Associated Targets ()

Mondo Description The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
Mondo Term and Equivalent IDs
MONDO:0011977:  8q22.1 microdeletion syndrome
GARD:0004722: 
MESH:C536110: 
OMIM:608156: NABLUS MASK-LIKE FACIAL SYNDROME
Orphanet:178303: 
SCTID:719664004: 
UMLS:C1842464: