Overview
Richards-Rundle syndrome 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.
Ataxia
Very frequent (80-99%)HP:0001251
Distal muscle atrophy, upper and lower limbs
Very frequent (80-99%)HP:0003693
Gait disturbance
Very frequent (80-99%)HP:0001288
Hearing impairment
Very frequent (80-99%)HP:0000365
Intellectual deterioration
Very frequent (80-99%)HP:0001268
Primary hypogonadism
Very frequent (80-99%)HP:0000815
Increased reflexes
Frequent (30-79%)HP:0001347
Ketonaciduria
Frequent (30-79%)HP:0002919
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Decreased bone mineral density Z score
Occasional (5-29%)HP:0004349
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Narrow head shape
Occasional (5-29%)HP:0000268
Stiff joint
Occasional (5-29%)HP:0001387
Quick Facts
- SNOMED CT
- 715415005
- UMLS CUI
- C0796136
- Fully Specified Name
- Richards-Rundle syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.