OntologiesmondoclassesMONDO:0017580   
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11p15.4 microduplication syndrome
http://purl.obolibrary.org/obo/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 appears inprideefo
Exact Synonyms
dup(11)p(15.4)
trisomy 11p15.4