Distal monosomy 7p

What is Distal monosomy 7p?

Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.

Other condition names

  • Distal deletion 7p
  • Monosomy 7pter
  • Telomeric deletion 7p

Age of Onset

  • Antenatal
  • Neonatal
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