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Distal monosomy 10q

Disease definition

Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.

ORPHA:96148

  • Synonym(s):
    • Distal deletion 10q
    • Monosomy 10qter
    • Telomeric deletion 10q
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Childhood
  • ICD-10: Q93.5
  • OMIM: 609625
  • UMLS: -
  • MeSH: -
  • GARD: 3711
  • MedDRA: -

Additional information

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