Trisomy 18p
MONDO:0015740Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.
Also known as: Duplication 18p, Duplication of the short arm of chromosome 18, trisomy of the short arm of chromosome 18, trisomy type 18p, 18p duplication, 18p trisomy, chromosome 18p duplication, partial trisomy 18p
3 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)
Chromosome 18 disorder
(1)
Autosomal anomaly
(0)
Disease by etiologic mechanism
(0)
Partial trisomy/tetrasomy of chromosome 18
(0)
Partial trisomy/tetrasomy of the short arm of chromosome 18
(0)
Syndrome caused by partial chromosomal duplication
(0)