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Trisomy 12p

Disease definition

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.

ORPHA:1699

Classification level: Disorder
  • Synonym(s):
    • Duplication 12p
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: C0795845
  • MeSH: -
  • GARD: 5305
  • MedDRA: -

Detailed information

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