Overview
SCPX (sterol carrier protein X) 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.
Azoospermia
Always present (100%)HP:0000027
Cerebellar tremor
Always present (100%)HP:0002080
Decreased motor nerve conduction velocity
Always present (100%)HP:0003431
Dystonic movements
Always present (100%)HP:0001332
Elevated circulating pristanic acid concentration
Always present (100%)HP:0034721
Focal T2 hyperintense thalamic lesion
Always present (100%)HP:0012692
Head tremor
Always present (100%)HP:0002346
Hypoacusis
Always present (100%)HP:0000365
Impaired vibratory sensation
Always present (100%)HP:0002495
Leukoencephalopathy
Always present (100%)HP:0002352
Neuropathy
Always present (100%)HP:0009830
Primary hypogonadism
Always present (100%)HP:0000815
Sense of smell impaired
Always present (100%)HP:0004409
Slow visual tracking
Always present (100%)HP:0000514
Torticollis
Always present (100%)HP:0000473
Related Conditions
Quick Facts
- SNOMED CT
- 1296861002
- UMLS CUI
- C3150990
- Fully Specified Name
- Deficiency of sterol carrier protein X (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.