Condition: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D


rs139632595 in EXOSC9 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 1D PMID 29727687 2018 Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.