[Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene].

The heterozygous c.1908C>G (p.Y636*) variant of the CHAMP1 gene probably underlay the WRD40 in this child. Genetic testing should be considered for children featuring global developmental delay, mental retardation, hypertonia and facial dysmorphism.