For example, progressive cerebello-cerebral atrophy (PCCA) Type 1 and PCH 2D are both due to SEPSECS mutations, and PCCA Type 2 and PCH 2E are due to VPS53 mutations.37 Some have reported new mutations under PCH subtypes that are still not widely recognized or included in OMIM, such as PLA2G6 as a PCH 1 subtype38 or CASK mutations as part of PCH 3.39 Other notable discrepancies are between the literature and OMIM. The gene discussed is VPS53; the disease is pontocerebellar hypoplasia.