Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype
2022
Abstrakt
Recently, 69 patients with heterozygous Transcription Factor 20 (TCF20) gene variants were described as showing predominant developmental delay with variable intellectual and behavioral abnormalities (DDVIBA) (MIM#618430) [1,2] and less frequently, poorly delineated movement disorders.