PhenomeGene — Human Disease Gene Website SeriesARF1

Molecular characteristics

This condition is caused by a genetic variant in the ARF1gene. Genes contain instructions for how the body grows and works. The ARF1gene is important for moving things around inside cells. When there is a change (mutation) in this gene, it doesn't work as well as it should, which can lead to problems with brain development and other parts of the body. These gene changes usually happen by chance and are not passed down from the parents.