Condition: Leukodystrophy


rs768180196 in DEGS1 gene and Leukodystrophy PMID 31186544 2019 DEGS1 variant causes neurological disorder.

rs776679653 in ISCA1 gene and Leukodystrophy PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.