Alwadei Syndrome

Alwadei Syndrome or Autosomal recessive mental retardation-61 (MRT61) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable abnormal facial features. Severe patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum. Alwadei Syndrome attributed to mutation in RUSC2 gene on chromosome 9p13.3.

It was first described at King Fahd Medical City by the pediatric neurologist Ali Alwadei in 2014. The syndrome was recognized and published in medical journal Developmental Medicine & Child Neurology in 2016. In 2017, Johns Hopkins University named the syndrome as "Alwadei Syndrome".