Case report
Open access
Jul 2026
Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion
A 5.5-year-old girl born to consanguineous parents who presented with refractory early-onset seizures, severe global developmental delay, growth failure, and microcephaly is described, highlighting the critical role of whole-exome sequencing in accurately delineating complex phenotypes in consanguineous populations.
Maryam Kachuei, Shayan Eghdami, Sarah Eyvaz-Ziaei et al.
· Annals of Medicine and Surge... · 0 citations