Disease: Congenital cerebellar ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia 		0.010 GeneticVariation disease BEFREE Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 31168944 2019