trisomy 18p
Trisomy 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.
MONDO:0016951
partial trisomy/tetrasomy of the short arm of chromosome 18
is_a
18p duplication
related
18p trisomy
related
Duplication 18p
exact
Duplication of the short arm of chromosome 18
exact
chromosome 18p duplication
related
partial trisomy 18p
related
trisomy of the short arm of chromosome 18
exact
trisomy type 18p
exact