Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects

**Semantic type:** Mental or Behavioral Dysfunction

**Definition:** 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.

**Synonyms:** - Intellectual Developmental Disorder, Autosomal Dominant 19 - MRD19 - Mental Retardation, Autosomal Dominant 19 - NEDSDV