Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal ERG
Very frequent (80-99%)HP:0000512
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Blindness
Very frequent (80-99%)HP:0000618
Impaired vision
Very frequent (80-99%)HP:0000505
Interictal vestibular dysfunction
Very frequent (80-99%)HP:0001751
Night blindness
Very frequent (80-99%)HP:0000662
Partial loss of field of vision
Very frequent (80-99%)HP:0001123
Progressive visual loss
Very frequent (80-99%)HP:0000529
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Vestibular areflexia
Very frequent (80-99%)HP:0008568
Ataxia
Frequent (30-79%)HP:0001251
Cataract
Frequent (30-79%)HP:0000518
High-grade hypermetropia
Frequent (30-79%)HP:0008499
Near sighted
Frequent (30-79%)HP:0000545
Abnormal cardiovascular system physiology
Occasional (5-29%)HP:0011025
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Abnormal electromyography finding
Occasional (5-29%)HP:0003457
Abnormality of dental color
Occasional (5-29%)HP:0011073
Anxiety disease
Occasional (5-29%)HP:0000739
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Cerebellar hypoplasia/atrophy
Occasional (5-29%)HP:0007360
Cerebral cortex atrophy
Occasional (5-29%)HP:0002120
Clumsiness
Occasional (5-29%)HP:0002312
Defective tooth enamel
Occasional (5-29%)HP:0000682
Delayed ability to walk
Occasional (5-29%)HP:0031936
Delayed gross motor development
Occasional (5-29%)HP:0002194
Depression
Occasional (5-29%)HP:0000716
Hyperacusis
Occasional (5-29%)HP:0010780
Hypotonia, early
Occasional (5-29%)HP:0008947
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Related Conditions
Usher syndrome type 1(child)
Usher syndrome type 2(child)
Retinitis pigmentosa-deafness-ataxia syndrome(child)
Usher syndrome type 3(child)
Autosomal recessive retinitis pigmentosa(parent)
Congenital malformation(parent)
Congenital sensorineural hearing loss(parent)
Developmental hereditary disorder(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 57838006
- UMLS CUI
- C5779620
- Fully Specified Name
- Retinitis pigmentosa-deafness 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.