Most children with a change in the ARFGEF1 gene start showing signs before the age of 2. These signs can include:
• Developmental delays – This might affect speech more than motor skills. Some children speak later than usual, but most eventually learn to walk.
• Behavior differences – These can include signs of ADHD, autism-like behaviors, anxiety, or mood changes.
• Seizures – Some children have mild seizures, while others may have more severe epilepsy that is harder to treat. Types of seizures can vary.
• Facial features– Some children have mild differences in facial appearance, such as larger ears, a wide mouth, high forehead, or a small chin. These features are usually not very noticeable.
Every child is different, and not all children with mutations in the gene will have all of these signs.
ARFGEF1