8q21.11 microdeletion syndrome

From BugSigDB


8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
Aliases
  • 8q21.11 microdeletion syndrome
  • chromosome 8q21.11 deletion syndrome
  • chromosome 8q21.11 deletion syndrome
  • Del(8)(q21.11)
  • Deletion 8q21.11
  • deletion 8q21.11
  • Monosomy 8q21.11
  • monosomy 8q21.11