An Extended Intellectual Disability Phenotype
A novel homozygous variant in the TRAPPC9 gene causing intellectual disability and autism Spectrum disorder
Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 causing a form of ID that is associated with autism. The findings were published in Meta Gene.