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Mosaic trisomy 14

Disease definition

Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.

ORPHA:1703

  • Synonym(s):
    • Mosaic trisomy chromosome 14
    • Trisomy 14 mosaicism
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q92.1
  • OMIM: -
  • UMLS: C0795851  C2930917
  • MeSH: C535489
  • GARD: 1327
  • MedDRA: -

Detailed information

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Additional information

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