Her molecular genetic analysis of whole exome sequencing (WES) at 3.5 years old identified the homozygous variant c.68G>A p.(Arg23Gln) chr22:38565366 on the PLA2G6 gene, which is known to be the pathogenic variant of INAD [6]. Here, PLA2G6 is linked to neurodegeneration with brain iron accumulation 2A.