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 - 6 of 6 for Pontocerebellar hypoplasia type 4
  1. TSEN54 gene 
    ... PCH2A. Mutations in the TSEN54 gene also cause pontocerebellar hypoplasia type 4 (PCH4) and appear to be a rare cause ... Wilkinson C, Barnett CP. Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. Pediatr Neurol. 2011 Sep;45(3):185-8. ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  2. Pontocerebellar hypoplasia 
    ... NORD) ClinicalTrials.gov PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A PONTOCEREBELLAR HYPOPLASIA, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  3. RARS2 gene 
    ... hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. doi: 10.1086/521227. Epub 2007 ... of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  4. CASK-related intellectual disability 
    ... Testing Registry: Syndromic X-linked intellectual disability Najm type ... Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  5. EXOSC3 gene 
    ... Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: ... EXOSC3. Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371- ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  6. SEPSECS gene 
    ... a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2) in several families of Iraqi and ... cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44. doi: 10.1016/j.ajhg.2010. ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics