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Results 1 - 9 of 9 for Pontocerebellar hypoplasia type 9
  1. Pontocerebellar hypoplasia 
    ... TYPE 6; PCH6 PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10 PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9 PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 PONTOCEREBELLAR HYPOPLASIA, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. EXOSC3 gene 
    ... Poll-The BT, Baas F. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  3. TSEN54 gene 
    ... G, Santorelli FM. Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. J Child Neurol. 2014 Apr;29(4):520-5. doi: 10.1177/0883073812470002. Epub 2013 Jan 9. Citation on PubMed Budde BS, Namavar Y, Barth ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  4. RARS2 gene 
    ... Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia type 6 caused by ... Epub 2012 May 8. Citation on PubMed Edvardson ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  5. 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
  6. TSEN34 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene ... P, Baas F. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Citation ...
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics
  7. VRK1 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene ... MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is ... Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  8. 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
  9. CASK-related intellectual disability 
    ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: ... X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194. Citation ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics