sulfide quinone oxidoreductase deficiency
MONDO:0030982Mondo
Findings
No curated finding names sulfide quinone oxidoreductase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute encephalopathyHPOHP:0006846
- 3 of 3 reported patients
- Elevated brain lactate level by MRSHPOHP:0012707
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Lactic acidosisHPOHP:0003128
- 3 of 3 reported patients
- ComaHPOHP:0001259
- 2 of 3 reported patients
- MigraineHPOHP:0002076
- 1 of 3 reported patients
- Tonic seizureHPOHP:0032792
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SQORHGNC:20390
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: sulfide quinone oxidoreductase deficiency
- Also called
- SQORDsulfide:quinone oxidoreductase deficiency