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Results 1 - 3 of 3 for Spondyloepiphyseal dysplasia congenita
  1. Spondyloepiphyseal dysplasia congenita 
    Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  2. Hypochondrogenesis 
    ... the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects ...
    https://medlineplus.gov/genetics/condition/hypochondrogenesis - Genetics
  3. COL2A1 gene 
    ... the COL2A1 gene have been found to cause spondyloepiphyseal dysplasia congenita, another disorder of bone growth that causes dwarfism, ... mature type II collagen molecules. This interference causes spondyloepiphyseal dysplasia congenita by affecting tissues that contain many type II ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics