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Results 1 - 4 of 4 for Lethal congenital contracture syndrome 2
  1. Multiple pterygium syndrome 
    ... results in muscle weakness and joint deformities called contractures that ... the two types. Lethal multiple pterygium syndrome is fatal before birth or ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  2. Spinal muscular atrophy with lower extremity predominance 
    ... Wirth B. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  3. COL2A1 gene 
    ... Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 2003 ... in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal ... subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. LMNA gene 
    ... novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Citation ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics