Overview
Sulfite oxidase deficiency is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cerebral atrophy
Always present (100%)HP:0002059
Cognitive delay
Always present (100%)HP:0001263
CVI
Always present (100%)HP:0100704
Decreased size of cranium
Always present (100%)HP:0000252
Dyskinesia
Always present (100%)HP:0100660
Elevated circulating creatine phosphokinase
Always present (100%)HP:0003236
Enophthalmos
Always present (100%)HP:0000490
Episodic vomiting
Always present (100%)HP:0002572
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Hyperintensity of cerebral white matter on MRI
Always present (100%)HP:0030890
Large pinnae
Always present (100%)HP:0000400
Mental retardation, severe
Always present (100%)HP:0010864
Metabolic acidosis
Always present (100%)HP:0001942
Multifocal EEG abnormality
Always present (100%)HP:0010841
Narrow forehead
Always present (100%)HP:0000341
No speech development
Always present (100%)HP:0001344
Psychomotor agitation
Always present (100%)HP:0000713
Small cerebellum
Always present (100%)HP:0001321
Sulfite oxidase deficiency
Always present (100%)HP:0003643
Sulfocysteinuria
Always present (100%)HP:0032350
Truncal hypotonia
Always present (100%)HP:0008936
Abnormality of lens position
HP:0001083
Ataxia
HP:0001251
Choreoathetosis
HP:0001266
Decreased urinary sulfate
HP:0003359
Delayed eruption of teeth
HP:0000684
Eczema
HP:0000964
Fine hair
HP:0002213
Generalised decreased muscle tone
HP:0001290
Generalised dystonia
HP:0007325
Related Conditions
Quick Facts
- SNOMED CT
- 367368009
- UMLS CUI
- C0268624
- Fully Specified Name
- Sulfite oxidase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.