FOXG1-related encephalopathy/Rett syndrome, congenital variant
OMIM number: 613454
Comments closing date: 10/04/2026
FOXG1-related encephalopathy (also called Rett syndrome, congenital variant) is a rare genetic condition which causes severe changes to brain development. It is caused when a pregnancy inherits a pathogenic variant in one copy of the FOXG1 gene. When the FOXG1 gene is working, it contributes to the normal development of the brain during fetal development. If a fetus has this condition, the development of the brain is disrupted, which leads to the symptoms of the condition. Changes to the brain can be detected on ultrasound scans during pregnancy. This can lead to features such as significant learning disability, epilepsy, irritability, repetitive motions, sleep disruption, and mild growth restrictions. Children with this condition usually do not acquire language. There is no cure for this condition, but supportive care can be provided.
