FOXG1 syndrome due to 14q12 microdeletion
ORPHA:261144· ICD-10 Q93.5
Definition
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal