Overview
Urocanate hydratase 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.
Abnormal finger chase test
Always present (100%)HP:0001310
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Moderate mental retardation
Always present (100%)HP:0002342
Abnormality of histidine metabolism
Very frequent (80-99%)HP:0010904
Ataxia
Very frequent (80-99%)HP:0001251
Ataxic tremor
Very frequent (80-99%)HP:0002345
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
High urine urocanic acid levels
Very frequent (80-99%)HP:0012237
Hyperactive deep tendon reflexes
Very frequent (80-99%)HP:0006801
Inability to coordinate movements when walking
Very frequent (80-99%)HP:0002066
Instability or lack of coordination of central trunk muscles
Very frequent (80-99%)HP:0002078
Nystagmus, horizontal, gaze-evoked
Very frequent (80-99%)HP:0007979
Predisposition to infections
Very frequent (80-99%)HP:0002719
Wide based walk
Very frequent (80-99%)HP:0002136
Decreased body height
HP:0004322
physical aggression
HP:0000718
Quick Facts
- SNOMED CT
- 60952007
- UMLS CUI
- C0268514
- Fully Specified Name
- Urocanate hydratase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.