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proximal 16p11.2 microdeletion syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
Mondo Term and Equivalent IDs
MONDO:0012756:  proximal 16p11.2 microdeletion syndrome
GARD:0010740: 
MESH:C579850: 
NCIT:C120408: 
Orphanet:261197: 
SCTID:699307007: 
SCTID:718227006: 
UMLS:CN202166: