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2q23.1 microdeletion syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
Mondo Term and Equivalent IDs
MONDO:0016459:  2q23.1 microdeletion syndrome
GARD:0010998: 
Orphanet:228402: 
SCTID:719657001: