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Troyer syndrome
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- Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ... pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia.People with ...
- ... One mutation has been identified in people with Troyer syndrome. This mutation deletes a DNA building block (nucleotide) ... this mutation causes the signs and symptoms of Troyer syndrome. More About This Health Condition KIAA0610 SPARTIN spastic ...
- ... meningioma National Organization for Rare Disorders (NORD) CEBALID SYNDROME; CEBALID PubMed Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung ...
- ... cells and are not inherited. People with MCTT syndrome do not appear to have an increased risk of leukemia. ... N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung ...
- ... D, Scearce-Levie K, Diaz D, Cahan H, Troyer MD, Harris JM, Escolar ML. Characterization of Fluid ... J. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008 Feb;121(2):e377-86. doi: ...