Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD

CONCLUSION: Compound heterozygous regulatory variants in NAGLU underlie diverse biochemical and neurodevelopmental phenotypes beyond enzymatic deficiency, emphasizing the value of integrative WES and systems biology approaches to refine pathogenicity assessments and guide targeted functional validation.

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