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5q14.3 microdeletion syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
Mondo Term and Equivalent IDs
MONDO:0016456:  5q14.3 microdeletion syndrome
GARD:0012166: 
Orphanet:228384: 
SCTID:719661007: