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Results 1 - 4 of 4 for "Schwartz-Jampel" syndrome
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  1. Schwartz-Jampel syndrome 
    Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  2. HSPG2 gene 
    ... the HSPG2 gene have been found to cause Schwartz-Jampel syndrome. This rare condition is characterized by continuous muscle ... and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  3. Stüve-Wiedemann syndrome 
    ... reflex (patellar reflex).Another condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part ... Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used. Stüve-Wiedemann ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  4. LIFR gene 
    ... inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/gene/lifr - Genetics