ZNHIT3 encodes a nuclear zinc finger protein essential for ribosome biogenesis through its role in box C/D small nucleolar ribonucleoprotein (snoRNP) assembly 1. The protein mediates the assembly of small nucleolar RNAs (snoRNAs) of class C/D into ribonucleoprotein complexes, which are crucial for pre-ribosomal RNA processing and 2'-O-methylation of rRNA 12. ZNHIT3 is highly expressed in proliferating cerebellar granule cell precursors and is indispensable for granule neuron survival and migration 2. Loss-of-function mutations in ZNHIT3 cause PEHO syndrome, a severe autosomal recessive encephalopathy characterized by progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy 23. Disease-associated mutations, including p.Ser31Leu and p.Cys14Phe, destabilize the protein and lead to reduced snoRNA levels, decreased rRNA levels, and impaired cellular translation 12. The phenotype can manifest antenatally with isolated hydrops and intrauterine demise, extending beyond the classical postnatal presentation 1. ZNHIT3 dysfunction results in almost complete cerebellar granule neuron loss and severe developmental abnormalities affecting the central nervous system 2.