Main Symptoms and Features
FOXG1 Syndrome is a rare genetic developmental disorder. That means that it is present from birth. The majority of cases are caused by a de nouvo mutation in the FOXG1 gene. The key features are:-
- developmental disorder
- microcephaly
- movement disorder
- seizures
People diagnosed with the syndrome have a wide spectrum of symptoms. Some are severely affected by the syndrome others not so much. However the majority have some level of disability that has a significant impact on their lives.
Other common symptoms are:-
- feeding difficulties
- agenisis of the corpus colosseum
- lack of speech (some speak but have severe speech, language and communication difficulties)
- inability to walk
- difficulty with sleep
- constipation
- gastric reflux
- learning disability
- scoliosis
Other uncommon reported symptoms:-
- pancreatitis
