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Triploidy

Disease definition

Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.

ORPHA:3376

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q92.7
  • OMIM: -
  • UMLS: C0333693
  • MeSH: D057885
  • GARD: 5295
  • MedDRA: -
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