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11p15.4 microduplication syndrome

MONDO:0017580

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.

Also known as: dup(11)p(15.4), trisomy 11p15.4

0 clinical trials for this condition and its sub-types, 0 tagged with 11p15.4 microduplication syndrome itself.

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