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An Extended Intellectual Disability Phenotype

Engy A. Ashaat et al.
December 05, 2020

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.