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Tetrasomy 18p

Synonym(s) Isochromosome 18p
Prevalence 1-9 / 1 000 000
Inheritance -
Age of onset Neonatal
  • Q99.8
  • C0795868
MeSH -
MedDRA -


Disease definition

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.

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