SQOR

sulfide quinone oxidoreductase
OMIM: 617658
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sulfide:quinone oxidoreductase deficiency, OMIM:619221
R-numbers: R356
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sulfide:quinone oxidoreductase deficiency, OMIM:619221
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sulfide:quinone oxidoreductase deficiency, OMIM:619221
R-numbers: R63
Signed-off version 5.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome