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chromosome 5q12 deletion syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
Mondo Term and Equivalent IDs
MONDO:0014298:  chromosome 5q12 deletion syndrome
Orphanet:439822: 
UMLS:C3810282: