Table 2. Whole Exome Sequencing.

Gene and transcript	Exon/intron number	Variant nomenclature	Zygosity	Classification	Disease	Inheritance
EIF2B5	Exon 7	c.1135A>T p.lle379Phe	Homozygous	Uncertain significance	Leuko-encephalopathy with vanishing white matter	Autosomal recessive