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Results 1 - 10 of 57 for Atypical
  1. Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots ( ...
  2. ... speech dyspraxia (ADRESD), intermediate epilepsy-aphasia disorder (IEAD), atypical childhood epilepsy with centrotemporal spikes (ACECTS), and childhood ...
  3. ... deficiency and immune dysregulation, PLCG2-associated FACU Familial atypical cold urticaria Familial cold autoinflammatory syndrome 3 Familial ...
  4. PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called ...
  5. Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels ...
  6. ... syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have ... of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it ...
  7. ... type IV, and the mild form is called atypical mucolipidosis type IV.Approximately 95 percent of individuals ... lifespan.About 5 percent of affected individuals have atypical mucolipidosis type IV. These individuals usually have mild ...
  8. ... with this disorder.Researchers have described classic and atypical forms of pantothenate kinase-associated neurodegeneration. The classic ... with movement that worsen rapidly. Features of the atypical form appear later in childhood or adolescence and ...
  9. ... fibrosis, the condition is considered a form of atypical cystic fibrosis.The protein made from the CFTR ... bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic ...
  10. ... Testing Registry: Congenital myopathy with internal nuclei and atypical cores Genetic Testing Registry: Myopathy, centronuclear, 5 Centronuclear ... unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10; ...
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