Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 9 of 9 for Pontocerebellar hypoplasia type 10
  1. Pontocerebellar hypoplasia 
    ... TYPE 5; PCH5 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10 PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9 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.2011.05.009. Citation on ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  3. 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. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  4. 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/s10545-011-9413-6. Epub 2011 Nov ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  5. TSEN2 gene 
    ... Bierhals T, Korenke GC, Uyanik G, Kutsche K. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 ...
    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.1399-0004.2009.01186_3.x. ...
    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 ... Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 ...
    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: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Citation on PubMed ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics