label: Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects
label_lc: neurodevelopmental disorder with spastic diplegia and visual defects
description: "An autosomal dominant condition caused by mutation(s) in the CTNNB1 gene, encoding catenin beta-1. It is characterized by severe intellectual disability, progressive spastic diplegia, visual impairment, and dysmorphic craniofacial features."