Tetrasomy 18p
MONDO:0013668Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
Also known as: Isochromosome 18p, tetrasomy 18p, tetrasomy type 18P, tetrasomy type 18p, Isochromosome 18P syndrome, chromosome 18p tetrasomy, tetrasomy chromosome 18p
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Hereditary disease
(176)
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)