8q12 microduplication syndrome
MONDO:0016458The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
Also known as: dup(8)(q12), trisomy 8q12, chromosome 8q12 microduplication syndrome
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 8 disorder
(0)
Disease by etiologic mechanism
(0)
Partial duplication of chromosome 8
(0)
Partial duplication of the long arm of chromosome 8
(0)
Syndrome caused by partial chromosomal duplication
(0)