20p13 microdeletion syndrome

From BugSigDB


20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Aliases
  • 20p subtelomeric deletion syndrome
  • 20p13 microdeletion syndrome
  • Del(20)(p13)
  • Monosomy 20p13
  • monosomy 20p13