tetrasomy 18p
Tetrasomy 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.
MONDO:0003847
hereditary disease
is_a
MONDO:0016951
partial trisomy/tetrasomy of the short arm of chromosome 18
is_a
Isochromosome 18p
exact
chromosome 18p tetrasomy
related
tetrasomy 18p
exact
tetrasomy chromosome 18p
related
tetrasomy type 18P
exact
tetrasomy type 18p
exact