This website provides information on individuals with variants in the AMOTL1 gene, including clinical data, molecular data, management, and research opportunities.

AMOTL1-related disease is a medical condition caused by dominant pathogenic variants in the AMOTL1 gene, most commonly affecting amino acids 157, 160 and 161. The disorder is characterized by orofacial clefting, tall stature, and congenital heart disease. Many affected individuals also have neurodevelopmental delay, dysmorphic features, myopia, hearing loss, liver disease, constipation, kidney and genitourinary anomalies, and scoliosis. Individuals with other variants have a more variable presentation, including orofacial clefting, dysmorphic features, multiorgan failure, respiratory insufficiency, congestive heart failure, acute kidney failure, coagulopathy, and neurodevelopmental delay.

Not all individuals with variants in AMOTL1 have these features, and severity can vary between individuals and within families.

This website was created to share and collect information about the clinical spectrum of AMOTL1-related disease to inform clinical management guidelines and research.  

Timothy C. Cox, PhD, University of Missouri-Kansas City, Kansas City, MO, USA, coxtc@umkc.edu

Alanna Strong, MD, PhD, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, strong.alanna@gmail.com