1q41q42 microdeletion syndrome
ORPHA:250999· ICD-10 Q93.5
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal