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Results 1 - 3 of 3 for Pontocerebellar "hypoplasia," type 7
  1. Pontocerebellar hypoplasia 
    ... TYPE 9; PCH9 PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7 PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E PONTOCEREBELLAR HYPOPLASIA, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. EXOSC3 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from EXOSC3 gene ... Poll-The BT, Baas F. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet ...
    https://medlineplus.gov/genetics/gene/exosc3 - 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 a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics