5q14.3 microdeletion syndrome

From BugSigDB


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
Aliases
  • 5q14.3 deletion syndrome
  • 5q14.3 microdeletion syndrome
  • autosomal dominant intellectual disability 20
  • chromosome 5q14.3 deletion syndrome
  • Del(5)(q14.3)
  • Monosomy 5q14.3
  • monosomy 5q14.3