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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pontocerebellar hypoplasia type 6


Other Names for this Disease
  • Encephalopathy fatal infantile with mitochondrial respiratory chain defects
  • Fatal infantile encephalopathy with mitochondrial respiratory chain defects
  • PCH6
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • Challenges and Opportunities in Primary Mitochondrial Diseases, Thursday, March 08, 2012 - Friday, March 09, 2012
    Location: Rockville, MD
    Description: The National Institutes of Health, Office of Rare Diseases Research and The United Mitochondrial Disease Foundation offer a 2-day meeting in March 2012 in Rockville, Maryland. The purpose of the meeting is to survey obstacles and needs of the Primary Mitochondrial Diseases Research and Development Community that could enhance translation of basic science discoveries to the development of diagnostics and therapeutics.An executive summary and white paper from the meeting can be accessed from the conference website below.

Other Names for this Disease
  • Encephalopathy fatal infantile with mitochondrial respiratory chain defects
  • Fatal infantile encephalopathy with mitochondrial respiratory chain defects
  • PCH6
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.