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Results 1 - 3 of 3 for Lethal congenital contracture syndrome 5
  1. Multiple pterygium syndrome 
    ... chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third ...
    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 
    ... Rimoin DL, Eyre DR, Cohn DH. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 2000 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics