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Results 1 - 3 of 3 for Pontocerebellar "hypoplasia," type 13
  1. EXOSC3 gene 
    ... Poll-The BT, Baas F. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9- ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  2. RARS2 gene 
    ... it into new proteins in mitochondria. ... designated pontocerebellar hypoplasia type 6 (PCH6). One mutation has been found in ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  3. CASK-related intellectual disability 
    ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics