207 top medical experts on Hoyeraal Hreidarsson syndrome across 20 countries and 13 U.S. states, including 34 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Hoyeraal Hreidarsson syndrome: An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: Cerebellar hypoplasia with pancytopenia,  Hoyeraal-Hreidarsson Syndrome


  

        

                    


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