Overview
Revesz 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.
Incoordination
Always present (100%)HP:0002311
Macrocytic anemia
Always present (100%)HP:0001972
Neutropoenia
Always present (100%)HP:0001875
Psychomotor development deficiency
Always present (100%)HP:0001263
Short telomere length
Always present (100%)HP:0031413
Visual loss
Always present (100%)HP:0000572
Wide based walk
Always present (100%)HP:0002136
Brain calcification
Very frequent (80-99%)HP:0430048
Hypoplastic bone marrow
Very frequent (80-99%)HP:0005528
Aplastic anemia
Frequent (30-79%)HP:0001915
Decreased hair growth
Frequent (30-79%)HP:0008070
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dystrophic nails
Frequent (30-79%)HP:0008404
Fine, reticulate skin pigmentation
Frequent (30-79%)HP:0007617
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Oral white plaque
Frequent (30-79%)HP:0002745
Poor growth
Frequent (30-79%)HP:0001510
Retinal detachment
Frequent (30-79%)HP:0000541
Serous retinal detachment
Frequent (30-79%)HP:0012231
Small cerebellum
Frequent (30-79%)HP:0001321
Ataxia
Occasional (5-29%)HP:0001251
Epilepsy
Occasional (5-29%)HP:0001250
Failure to thrive in first year of life
Occasional (5-29%)HP:0001531
Skin degeneration
Occasional (5-29%)HP:0004334
Abnormal deposits of calcium in the brain
HP:0002514
Fine hair
HP:0002213
Hypertonia
HP:0001276
Intrauterine growth retardation, IUGR
HP:0001511
Involuntary, rapid, rhythmic eye movements
HP:0000639
Leukocoria
HP:0000555
Quick Facts
- SNOMED CT
- 723512008
- UMLS CUI
- C1327916
- Fully Specified Name
- Revesz syndrome (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.