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Results 1 - 9 of 9 for Pontocerebellar hypoplasia type 3
  1. Pontocerebellar hypoplasia 
    ... TYPE 4; PCH4 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 PONTOCEREBELLAR HYPOPLASIA, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. TSEN54 gene 
    ... Wilkinson C, Barnett CP. Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. Pediatr Neurol. 2011 Sep;45(3):185-8. doi: 10.1016/j.pediatrneurol.2011. ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  3. TSEN2 gene 
    ... 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
  4. 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
  5. RARS2 gene 
    ... S, Brown G, Grunewald S. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis. 2012 May;35(3):459-67. doi: 10.1007/s10545-011-9413- ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  6. EXOSC3 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 ... in an exosome component 3 protein with reduced or no function. The most ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  7. SEPSECS gene 
    ... the function of nerve cells (neurons). ... designated pontocerebellar hypoplasia type 2 (PCH2) in several families of Iraqi and ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  8. 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 ... No abstract available. Citation on PubMed Budde ...
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics
  9. VRK1 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics