SLC1A4, solute carrier family 1 member 4, 6509

N. diseases: 40; N. variants: 17
Disease: Congenital microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.010 GeneticVariation disease BEFREE A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. 29989513 2018