1q44 microdeletion syndrome
From BugSigDB
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
- Aliases
- 1q44 microdeletion syndrome
- chromosome 1q44 microdeletion syndrome
- Del(1)(q44)
- Monosomy 1q44
- monosomy 1q44