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
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Choreoathetoid movements
Very frequent (80-99%)HP:0001266
Glomerulopathy
Very frequent (80-99%)HP:0100820
Intellectual disability, profound
Very frequent (80-99%)HP:0002187
Loose-jointedness
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 in adulthood
Very frequent (80-99%)HP:0000083
Squint
Very frequent (80-99%)HP:0000486
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Decreased body height
Frequent (30-79%)HP:0004322
Decreased transverse dimension of face
Frequent (30-79%)HP:0000275
Hypertrophy of mandible
Frequent (30-79%)HP:0000303
Hypotrophic cheekbone
Frequent (30-79%)HP:0010669
Impaired vision
Frequent (30-79%)HP:0000505
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
Large pinnae
Frequent (30-79%)HP:0000400
Malar hyperplasia
Frequent (30-79%)HP:0010620
Space between great toe and second toe
Frequent (30-79%)HP:0001852
Spastic diparesis
Frequent (30-79%)HP:0001264
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Hypopigmented skin patches
Occasional (5-29%)HP:0001053
Lens opacities
Occasional (5-29%)HP:0000518
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.