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Results 1 - 9 of 9 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. TSEN54 gene 
    ... Santorelli FM. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823- ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  3. EXOSC3 gene 
    ... Yourshaw M, Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  4. RARS2 gene 
    ... Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 2013 Jan;36( ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  5. TSEN2 gene 
    ... cause pontocerebellar hypoplasia. Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004.2009.01186_3.x. No abstract available. Citation on PubMed Bierhals T, Korenke GC, Uyanik G, Kutsche K. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and ...
    https://medlineplus.gov/genetics/gene/tsen2 - Genetics
  6. TSEN34 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene ... Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics
  7. SEPSECS gene 
    ... to cause a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2) in several families of Iraqi and Moroccan ancestry. When PCH2 results from mutations in the SEPSECS gene, it is ... Researchers also refer to PCH2D as progressive cerebellocerebral ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  8. VRK1 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene ... the nucleus. Mol Biol Cell. 2006 May;17(5):2451-64. doi: 10.1091/mbc.e05-12-1179. ... atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  9. 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