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11p15.4 microduplication syndrome

Disease Summary
Associated Targets ()

Mondo Description 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
Mondo Term and Equivalent IDs
MONDO:0017580:  11p15.4 microduplication syndrome