IMPE Abstracts

Purpose: Vissers-Bodmer Syndrome is an autosomal dominant disorder caused by CNOT1 gene mutation. It is characterized by systemic developmental delay, mental retardation, language-motor retardation, behavioral abnormalities, growth abnormalities, hypotonia, and distal skeletal defects such as deformities of the hands and feet, It’s evident from infancy. The phenotype is highly variable, with some people having only mild learning difficulties and others h...