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Results 11 - 18 of 18 for Arthrogryposis
  1. Spinal muscular atrophy with lower extremity predominance 
    ... individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands.In most ... BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur J Hum ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  2. MYH3 gene 
    ... Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ... A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  3. CREBBP gene 
    ... syndrome, described above), abnormal thumbs, and rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  4. Glycogen storage disease type IV 
    ... fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  5. Chromosome 16 
    ... distinctive facial features, abnormal thumbs, and rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  6. Desmosterolosis 
    ... have muscle stiffness (spasticity) and stiff, rigid joints (arthrogryposis) affecting their hands and feet. Other features seen ...
    https://medlineplus.gov/genetics/condition/desmosterolosis - Genetics
  7. TGFB3 gene 
    ... syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys- ...
    https://medlineplus.gov/genetics/gene/tgfb3 - Genetics
  8. TNNT3 gene 
    ... Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/tnnt3 - Genetics
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