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Results 1 - 2 of 2 for Pontocerebellar hypoplasia type 5
  1. Pontocerebellar hypoplasia 
    ... TYPE 1A; PCH1A PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 PONTOCEREBELLAR HYPOPLASIA, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. CASK-related intellectual disability 
    ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: ... In: Eur J Hum Genet. 2010 May;18(5):552. Citation on PubMed or Free article on ... pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99- ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics