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8p23.1 microdeletion syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
Mondo Term and Equivalent IDs
MONDO:0016658:  8p23.1 microdeletion syndrome
GARD:0003769: 
MESH:C537827: 
Orphanet:251071: 
SCTID:716381003: 
UMLS:CN201888: