A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report.

We report a 7-year-old male with microcephaly, spasticity, strabismus, dysmorphism, autistic behaviors, and moderate ID due to a novel de novo likely pathogenic CTNNB1 variant (c.2215A>C, p.Met739Leu). This case underscores Whole Exome Sequencing's diagnostic utility for early detection of rare monogenic neurodevelopmental disorders.