11p15.4 microduplication syndrome
MONDO:001758011p15.4 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.
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Disease
(680)
Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Overgrowth syndrome
(1)
Autosomal anomaly
(0)
Chromosome 11 disorder
(0)
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