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Trisomy 18p

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Disease definition

A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.

ORPHA:1715

Classification level: Disorder

Synonym(s):
  • Duplication 18p
  • Duplication of the short arm of chromosome 18
  • Trisomy of the short arm of chromosome 18

Prevalence: <1 / 1 000 000

Inheritance: -

Age of onset: Adolescent, Adult, Childhood, Infancy

ICD-10: Q92.2

ICD-11: LD41.H1

UMLS: C2931811

MeSH: C538307

GARD: 5323

A summary on this disease is available in Français (2021) Español (2021) Italiano (2016) Nederlands (2021)
Detailed information
Guidelines
Anesthesia guidelines
English (2017) - Orphananesthesia
Čeština (2017) - Orphananesthesia

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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