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  • transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon
  • At least 10 mutations in the SKI gene have been found in people with Shprintzen-Goldberg syndrome
  • to Rett syndrome, which is a disorder whose characteristic features include developmental problems
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • Related term: Dravet syndrome
  • At least 11 mutations in the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III
  • is unclear whether these mutations cause Romano-Ward syndrome or lead to another heart condition with