SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: Dysarthria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.110 GeneticVariation disease BEFREE Snyder-Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech. 23897707 2013
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.110 Biomarker disease HPO