Pathogenic variants in ZNHIT3 (MIM: 604500) and NOP56 (MIM: 614154) cause the progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome (MIM: 260565) and spinocerebellar ataxia 36 (SCA36 [MIM: 614153]), respectively.14 Here, ZNHIT3 is linked to PEHO syndrome.