Developmental delay with variable intellectual impairment and behavioral abnormalities
Developmental delay with variable intellectual impairment and behavioral abnormalities
Definition
A neurodevelopmental disorder caused by a mutation in TCF gene, characterized by impaired intellectual development with speech difficulties and behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity.
Also known as DDVIBA, developmental delay with variable intellectual impairment and behavioral abnormalities, TCF20-related disorder, TCF20-related syndrome — per MONDO