Novel Mutation in in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.

Background: Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape.

Methods: Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature.

Results: Whole-exome sequencing (WES) revealed a novel homozygous stop-gain (c.