11p15.4 microduplication syndrome

Orpha code: 300305OMIM code:

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Dup(11)p(15.4)
Dup(11)p(15.4)
Trisomia 11p15.4
Trisomy 11p15.4
ORPHA code
300305
OMIM code
-
ICD10 code
Q92.3
ICD11 code
-

No additional description.

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