encephalopathy due to sulfite oxidase deficiency
MONDO:0019358Mondo
Findings
No curated finding names encephalopathy due to sulfite oxidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
Definition from the Mondo Disease Ontology (MONDO:0019358), read 2026-09-29. CC BY 4.0.
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.
- Abnormal pattern of respirationHPOHP:0002793
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- Ectopia lentisHPOHP:0001083
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Spastic tetraparesisHPOHP:0001285
- Very frequent (80% to 99% of cases)