Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome

Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome, also known as ctnnb1 syndrome, is related to neurodevelopmental disorder with spastic diplegia and visual defects and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome is CTNNB1 (Catenin Beta 1). Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and spasticity