sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
MONDO:0009644Mondo
Findings
No curated finding names sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Neonatal death
HPO, annotations 2026-09-02
Features
14 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Decreased urinary urateHPOHP:0011935
- 1 of 1 reported patient
- Diffuse cerebral atrophyHPOHP:0002506
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- HypouricemiaHPOHP:0003537
- 1 of 1 reported patient
- Increased urinary sulfite levelHPOHP:0011942
- 1 of 1 reported patient
- IrritabilityHPOHP:0000737
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- OpisthotonusHPOHP:0002179
- 1 of 1 reported patient
Show the remaining 2
- Spastic tetraplegiaHPOHP:0002510
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
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.
- HGNC:7193HGNC:7193
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
6 names
Resolves to: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- Also called
- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type BMOCOD type BMOCODBmolybdenum cofactor deficiency Bmolybdenum cofactor deficiency, complementation group type Bsulfite oxidase deficiency due to molybdenum cofactor deficiency type B