Recessive mutations in EXOSC3, EXOSC8, and EXOSC9 have been associated with variable combinations of pontocerebellar hypoplasia (PCH) and spinal motor neuron dysfunction (Pontocerebellar hypoplasia type 1B, OMIM # 614678; Pontocerebellar hypoplasia type 1C, OMIM #616081; and Pontocerebellar hypoplasia type 1D, OMIM # 618065) and with central nervous system demyelination in patients carrying mutations in EXOSC8 (Wan et al, 2012; Boczonadi et al, 2014; Muller et al, 2015; Burns et al, 2018; Morton et al, 2018). The gene discussed is EXOSC9; the disease is pontocerebellar hypoplasia type 1.