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Results 1 - 7 of 7 for Pontocerebellar "hypoplasia," type 15
  1. TSEN54 gene 
    ... doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Citation on PubMed Rudaks LI, Moore L, Shand KL, Wilkinson C, Barnett CP. Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. Pediatr Neurol. 2011 Sep;45(3):185- ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  2. Pontocerebellar hypoplasia 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 PONTOCEREBELLAR ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  3. RARS2 gene 
    ... mutations cause a form of the disorder designated pontocerebellar hypoplasia type 6 (PCH6). One mutation has been found in ... characteristic features of another form of the condition, pontocerebellar hypoplasia type 1 (PCH1).The RARS2 gene mutations that cause ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  4. TSEN2 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN2 gene ... 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
  5. TSEN34 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene ... The BT. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 ... Epub 2010 Oct 15. Citation on PubMed
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics
  6. 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
  7. CASK-related intellectual disability 
    ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: ... idiopathic infantile nystagmus. Hum Mol Genet. 2013 May 15;22(10):2105-18. doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics