sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Findings
No curated finding names sulfite oxidase deficiency due to molybdenum cofactor deficiency type C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
Definition from the Mondo Disease Ontology (MONDO:0014212), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Neonatal death
HPO, annotations 2026-09-02
Features
21 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.
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 3 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Generalized myoclonic seizureHPOHP:0002123
- 1 of 1 reported patient
- Generalized-onset seizureHPOHP:0002197
Show the remaining 9
- HypouricemiaHPOHP:0003537
- 1 of 1 reported patient
- Increased urinary taurineHPOHP:0003166
- 1 of 1 reported patient
- Limb hypertoniaHPOHP:0002509
- 1 of 1 reported patient
- Molybdenum cofactor deficiencyHPOHP:0003570
- 1 of 1 reported patient
- PolymicrogyriaHPOHP:0002126
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 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.
- GPHNHGNC:15465
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2023
- Moderate · G2P · Autosomal recessive · 2026
- Moderate · Natera · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
- Also called
- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type CMOCOD type CMOCODCmolybdenum cofactor deficiency Cmolybdenum cofactor deficiency, complementation group type C