Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype

Abstract

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.

Keywords

• Dystonia
• prominent
• feature
• TCF20-associated
• neurodevelopmental
• disorder
• Expanding
• phenotype