Case:9 months old male DiseaseAssertion:Infantile neuroaxonal dystrophy FamilyInfo:Paternally inherited mutation CasePresentingHPOs:HP:0002376,HP:0000648,HP:0000648,HP:0012444 Case HPO Free Text: N/A Case NOT HPOs: N/A Genotyping Method: Targeted Sanger sequencing identified PLA2G6 mutations c.[1799G>A];[2221C>T] . Both mutations have previously been identified in unrelated patients with PLAN. Variant:NM_003560.2:c.2221C>T ClinVarID:265448 gnomAD:https://gnomad.broadinstitute.org/variant/22-38112559-G-A?dataset=gnomad_r4 Multiple Gene Variants: GeneName:PLA2G6 Variant:NM_003560.2:c.1799G>A ClinVarID:159748 gnomAD:https://gnomad.broadinstitute.org/variant/22-38116155-C-T?dataset=gnomad_r4