Overview
Hunter Jurenka Thompson 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.
Abnormality of retina blood vessels
Very frequent (80-99%)HP:0008046
Choreoathetoid movements
Very frequent (80-99%)HP:0001266
Glomerulopathy
Very frequent (80-99%)HP:0100820
Intellectual disability, profound
Very frequent (80-99%)HP:0002187
Joint instability
Very frequent (80-99%)HP:0001382
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Optic atrophy
Very frequent (80-99%)HP:0000648
Proteinuria
Very frequent (80-99%)HP:0000093
Renal failure
Very frequent (80-99%)HP:0000083
Retinal pigmentary anomaly
Very frequent (80-99%)HP:0007703
Squint
Very frequent (80-99%)HP:0000486
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Cheekbone underdevelopment
Frequent (30-79%)HP:0010669
Decreased body height
Frequent (30-79%)HP:0004322
Hypertrophy of mandible
Frequent (30-79%)HP:0000303
Increased reflexes
Frequent (30-79%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Large mouth
Frequent (30-79%)HP:0000154
Macrotia
Frequent (30-79%)HP:0000400
Malar hyperplasia
Frequent (30-79%)HP:0010620
Poor vision
Frequent (30-79%)HP:0000505
Space between great toe and second toe
Frequent (30-79%)HP:0001852
Spastic diparesis
Frequent (30-79%)HP:0001264
Thin face
Frequent (30-79%)HP:0000275
Cataract
Occasional (5-29%)HP:0000518
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Hypopigmented skin patches
Occasional (5-29%)HP:0001053
Mask-like facies
Occasional (5-29%)HP:0000298
Prominent ear lobes
Occasional (5-29%)HP:0009748
Glomerulosclerosis
HP:0000096
Related Conditions
Chronic disorder of genitourinary system(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of the visual system(parent)
Hereditary nephropathy(parent)
Choreoathetosis(parent)
Multiple system malformation syndrome(parent)
Degeneration of retina(parent)
Cerebellar disorder(parent)
Spastic diplegia(parent)
Hereditary disorder of nervous system(parent)
Recessive hereditary disorder (autosomal)(parent)
Chronic musculoskeletal disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Genetic intellectual disability(parent)
Genetic disease of glomerulus(parent)
Progressive chorea(parent)
Quick Facts
- SNOMED CT
- 1208341008
- UMLS CUI
- C1850331
- Fully Specified Name
- Severe oculo-renal-cerebellar 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.