P419: Expanding the clinical spectrum of NR4A2-related disorder

and a left ear pit.Brain MRI was normal, except for mildly symmetrically enlarged ocular globes.Ophthalmologic evaluation identified high myopia, vertical nystagmus, and right-eye exotropia.Diagnostic Workup: Chromosomal microarray analysis (CMA) was non-diagnostic.Trio exome sequencing identified a de novo heterozygous likely pathogenic variant (NM_001970.4 c.334 C>T; p.(L112F)) in exon 4 of EIF5A.This variant was not observed in large population databases (gnomAD).In silico analysis suggests that this missense variant is deleterious to protein structure and function.Trio exome sequencing also revealed a secondary finding in PALB2 (NM_024675.3 c.940 C>T; p.(Gln314Ter)) in both the proband and her father; however, this finding is unlikely to contribute to the proband's clinical phenotype.