ARF1

Clinical Characteristics

The most common problems are learning difficulties, often significant, and delays in reaching milestones like talking and walking. Some children have a smaller head. Seizures are also common. Brain scans can sometimes show that the brain didn't form in the usual way. Some children might have problems with their eyesight or hearing. Less often, there can be other issues like a small lower jaw, ears that are set lower on the head, teeth that are not in the right place, a short space between the nose and upper lip, and sometimes skin rashes or liver problems.