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Results 1 - 10 of 10 for Pontocerebellar hypoplasia type 2
  1. TSEN54 gene 
    ... cause of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN54 gene mutations, ... G, Santorelli FM. Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. J Child Neurol. 2014 Apr;29(4):520- ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  2. TSEN2 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN2 gene mutations, ... Bierhals T, Korenke GC, Uyanik G, Kutsche K. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two ...
    https://medlineplus.gov/genetics/gene/tsen2 - Genetics
  3. Pontocerebellar hypoplasia 
    ... W, Hoozemans JJ, Poll-The BT, Troost D. Pontocerebellar hypoplasia type 2: a neuropathological update. Acta Neuropathol. 2007 Oct;114( ... Yourshaw M, Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: ... Epub 2013 Jan 2. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  4. 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 sometimes ... hypoplasia. Researchers also refer to PCH2D as progressive ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  5. TSEN34 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene mutations, ...
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics
  6. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
    https://medlineplus.gov/cerebellardisorders.html - Health Topics
  7. 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 2013 Jan 2. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  8. RARS2 gene 
    ... HUMAN Tests of RARS2 ... C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  9. VRK1 gene 
    ... its role is not well understood. ... designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  10. CASK-related intellectual disability 
    ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics