AMOTL1-related disease is a rare, autosomal dominant genetic disorder characterized by orofacial clefting, tall stature, and congenital heart disease. Some affected individuals also have neurodevelopmental delay, dysmorphic features, myopia, hearing loss, liver disease, constipation, kidney and genitourinary anomalies, and scoliosis. Most cases are caused by variants affecting amino acids 157, 160 and 161. Individuals with variants outside this region have a more variable presentation of orofacial clefting, dysmorphic features, multiorgan failure, respiratory insufficiency, congestive heart failure, acute kidney failure, coagulopathy, and neurodevelopmental delay. Mechanism of disease is unknown.
AMOTL1