A variant affecting Chromosome 11, within the gene TMX2, TMX2-CTNND1 (thioredoxin related transmembrane protein 2| TMX2-CTNND1 readthrough (NMD candidate)), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity