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.