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Maternal uniparental disomy of chromosome X

Disease definition

A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.

ORPHA:261519

Classification level: Disorder
  • Synonym(s):
    • UPD(X)mat
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q99.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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