Phenotype-Genotype Correlation in a Case of Infantile Hypotonia and Epilepsy: A Study of the Clinical Significance of Two Variants of Uncertain Significance in HIVEP2 and LINGO1
S. El Bouhali, A. Laaraje, A. Radi, S. Ait Hmadouch & R. Abilkassem · Asian Journal of Pediatric Research · 2025
Genetic causes of neurodevelopmental disorders are frequent and complex. We Report The case of a 10-month-old infant followed for psychomotor delay, severe hypotonia, spastic movements of the lower limbs, and focal seizure with impaired consciousness. Whole-exome sequencing revea...
Open access
Research Article
10.9734/ajpr/2025/v15i6458