Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Always present (100%)HP:0001251
Brain wasting
Always present (100%)HP:0012444
Difficulty articulating speech
Always present (100%)HP:0001260
Flushing
Always present (100%)HP:0031284
Increased methionine in blood
Always present (100%)HP:0003235
Outward facing eye ball
Always present (100%)HP:0000577
Unsteady walk
Always present (100%)HP:0002317
Amino acid levels abnormal
Very frequent (80-99%)HP:0004337
Arachnodactyly
Very frequent (80-99%)HP:0001166
Disproportionate tall stature
Very frequent (80-99%)HP:0001519
Dull intelligence
Very frequent (80-99%)HP:0001249
Homocystinemia
Very frequent (80-99%)HP:0002160
Lens dislocation
Very frequent (80-99%)HP:0001083
Osteoporosis
Very frequent (80-99%)HP:0000939
Recurrent fractures
Very frequent (80-99%)HP:0002757
Tooth mass arch size discrepancy
Very frequent (80-99%)HP:0000678
Arteriovenous malformation
Frequent (30-79%)HP:0100026
Blood clot in artery
Frequent (30-79%)HP:0004420
Blood clot in artery of lung
Frequent (30-79%)HP:0002204
Blood clot in vein
Frequent (30-79%)HP:0004936
Brain ischemia
Frequent (30-79%)HP:0002637
Cavus foot
Frequent (30-79%)HP:0001761
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Genu valga
Frequent (30-79%)HP:0002857
High blood pressure
Frequent (30-79%)HP:0000822
Hunched back
Frequent (30-79%)HP:0002808
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Near sighted
Frequent (30-79%)HP:0000545
Pectus carinatum
Frequent (30-79%)HP:0000768
Pectus excavatum
Frequent (30-79%)HP:0000767
Quick Facts
- SNOMED CT
- 24308003
- UMLS CUI
- C0751202
- Fully Specified Name
- Cystathionine beta-synthase 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.