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Results 1 - 4 of 4 for Lethal congenital contracture syndrome 9
  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 features. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  3. LMNA gene 
    ... the signs and symptoms of Hutchinson-Gilford progeria syndrome. More About This Health Condition At least 15 mutations in the LMNA gene have been reported to cause LMNA-related congenital muscular dystrophy (L-CMD), a rare condition characterized ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
  4. COL2A1 gene 
    ... 9):2555-9. doi: 10.1073/pnas.82.9.2555. Citation on PubMed or Free article on PubMed Central Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics