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 - 5 of 5 for pch2
Did you mean ptch?
  1. Pontocerebellar hypoplasia 
    ... designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, ... are evident from early infancy.Common features of PCH2 include a lack of voluntary motor skills (such ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. TSEN54 gene 
    ... of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN54 gene mutations, it is sometimes ... A307S). About 90 percent of all people with PCH2 have this mutation in both copies of the ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  3. SEPSECS gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  4. TSEN34 gene 
    ... of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene mutations, it is sometimes ...
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics
  5. TSEN2 gene 
    ... of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN2 gene mutations, it is sometimes ...
    https://medlineplus.gov/genetics/gene/tsen2 - Genetics