Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.010 GeneticVariation disease BEFREE Surprisingly, our patient had no macrocephaly, which is a typical finding in MCL1 mutations; we emphasize that comorbid unrelated Turner's syndrome could explain the absence of macrocephaly: although short stature is typical, microcephaly is not associated with Turner's syndrome. 31302377 2019