Shadi Shahatit

Novel variant in KARS1 in a consanguineous family with Intellectual Disability and hearing impairment: WES and in silico protein analysis.

Intellectual Disability (ID) is a genetically heterogeneous neurodevelopmental disorder that imposes a substantial burden on families, with huge demands on healthcare services. Autosomal recessive forms are particularly prevalent in inbred populations, where rare homozygous variants often remain undiagnosed. Trio-based...