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2q31.1 microdeletion syndrome

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2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.

Identifiers
MONDO:0016652 Orphanet:251014
Part of
Partial deletion of the long arm of chromosome 2
Also known as
Del(2)(q31.1) · monosomy 2q31.1

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