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