SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Disease: Extrapyramidal sign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.010 Biomarker phenotype BEFREE MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. 22805248 2013