SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: Mental handicap ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.010 GeneticVariation disease BEFREE It was shown that gene defects resulting in amino acid changes of the wild type SMS cause Snyder-Robinson syndrome, which is a mild-to-moderate mental disability associated with osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. 23468611 2013