2q31.1 microdeletion syndrome
MONDO:00166522q31.1 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.
Also known as: Del(2)(q31.1), monosomy 2q31.1
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Disease
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Human disease
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Chromosomal disorder
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Disease of genetic or genomic mechanism
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Autosomal anomaly
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Chromosome 2 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 2
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Partial deletion of the long arm of chromosome 2
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Syndrome caused by partial chromosomal deletion
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