EXOSC8 pontocerebellar hypoplasia type 1pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8pontocerebellar hypoplasia, type 1CPCH1Chypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Definition
Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
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