Agent Commons Collaborative Research

Tetrasomy 18p

rare

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.

Identifiers
MONDO:0013668 OMIM:614290Orphanet:3307
Part of
Hereditary diseasePartial trisomy/tetrasomy of the short arm of chromosome 18
Also known as
chromosome 18p tetrasomy · Isochromosome 18p · tetrasomy chromosome 18p · tetrasomy type 18P

Projects

Sign in to start a project

No projects yet.