SQOR

sulfide quinone oxidoreductase
OMIM: 617658, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SQOR in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leigh-like disorder
  • Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221

Amber SQOR in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.970

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh-like disorder
    • Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221