Overview
By MedlinePlus, National Library of Medicine
NIH: National Eye Institute Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Visual loss
Always present (100%)HP:0000572
Abnormal cochlea morphology
Very frequent (80-99%)HP:0000375
Abnormal ERG
Very frequent (80-99%)HP:0000512
Blind spot
Very frequent (80-99%)HP:0000575
Difficulties with night vision
Very frequent (80-99%)HP:0000662
Retinitis pigmentosa
Very frequent (80-99%)HP:0000510
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Abnormality of balance
Frequent (30-79%)HP:0002141
Cataract
Frequent (30-79%)HP:0000518
Decreased visual acuity
Frequent (30-79%)HP:0007663
Interictal vestibular dysfunction
Frequent (30-79%)HP:0001751
No development of motor milestones
Frequent (30-79%)HP:0001270
Speech and language difficulties
Frequent (30-79%)HP:0000750
Tunnel vision
Frequent (30-79%)HP:0007994
Anxiety disease
Occasional (5-29%)HP:0000739
Depression
Occasional (5-29%)HP:0000716
Abolished electroretinogram
HP:0000550
Absent vestibular function
HP:0008555
Quick Facts
- SNOMED CT
- 232057003
- UMLS CUI
- C1568247
- Fully Specified Name
- Usher syndrome type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.