14q12 microdeletion syndrome

From BugSigDB


14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
Aliases
  • 14q12 microdeletion syndrome
  • Del(14)(q12)
  • Monosomy 14q12
  • monosomy 14q12