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Results 1 - 4 of 4 for Lethal congenital contracture syndrome 1
  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 
    ... type II, alpha 1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC STL1 Tests of COL2A1 PubMed COLLAGEN, TYPE ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. LMNA gene 
    ... P, Levy N. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15; ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics