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Results 1 - 1 of 1 for "Trichomegaly-retina" pigmentary "degeneration-dwarfism" syndrome
Did you mean "tricho megaly-retina" pigmentary "degeneration-dwarfism" syndrome?
  1. PNPLA6 gene 
    ... syndrome (described above), Gordon Holmes syndrome (described above), Oliver-McFarlane syndrome, Laurence-Moon syndrome, and spastic paraplegia type 39. ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics