Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.020 Biomarker disease BEFREE These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies. 30419932 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.020 GeneticVariation disease BEFREE Here we report a case of two Japanese siblings with Leigh syndrome, some features of CAGSSS, and West syndrome that are found to have compound heterozygous novel IARS2 mutations. 30041933 2018