11p15.4 microduplication syndrome
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.
Exact Synonyms
dup(11)p(15.4)
trisomy 11p15.4
class Information
excluded subClassOf
has exact match
term tracker item
class Relations
Equivalent to