1q41q42 microdeletion syndrome
From BugSigDB
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
- Aliases
- 1q41-q42 microdeletion syndrome
- Del(1)(q41q42)
- Monosomy 1q41-q42
- Monosomy 1q41q42
