Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0973461
Disease: Dysphasia
Dysphasia
0.010 GeneticVariation disease BEFREE IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS). 30041933 2018