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Results 1 - 3 of 3 for Martsolf syndrome
  1. RAB18 deficiency 
    ... These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but ... or a small clitoris or vaginal opening (introitus).Martsolf syndrome affects the same body systems as Warburg micro ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  2. RAB3GAP2 gene 
    ... at the severe end of the spectrum and Martsolf syndrome at the mild end. RAB3GAP2 gene mutations are the most common cause of Martsolf syndrome and can also cause Warburg micro syndrome.Martsolf ...
    https://medlineplus.gov/genetics/gene/rab3gap2 - Genetics
  3. RAB3GAP1 gene 
    ... at the severe end of the spectrum and Martsolf syndrome at the mild end. RAB3GAP1 gene mutations are ... of Warburg micro syndrome and are rare in Martsolf syndrome.Warburg micro syndrome is caused by RAB3GAP1 gene ...
    https://medlineplus.gov/genetics/gene/rab3gap1 - Genetics