Parents

AMOTL1-related disease is a rare genetic condition caused by spelling changes in the AMOTL1 gene. Affected individuals can have cleft lip and/or cleft palate, tall stature, structural heart differences, learning differences, near-sightedness, hearing loss, liver disease, constipation, kidney differences and scoliosis. Some individuals with different spelling changes in the AMOTL1 gene can have multi-organ disease that is life-threatening. This condition is inherited in an autosomal dominant manner, meaning that 1 change is sufficient to cause disease.