1q44 microdeletion syndrome
ORPHA:238769· ICD-10 Q93.5
Definition
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal