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 		0.010 GeneticVariation disease BEFREE We identified biallelic mutations in UBA5 in a Japanese boy with intractable West syndrome, profound failure to thrive, and severe cerebral and cerebellar atrophy. 30078785 2018