Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal optic disc morphology
Very frequent (80-99%)HP:0012795
Retinal pigmentary anomaly
Very frequent (80-99%)HP:0007703
Severely impaired vision
Very frequent (80-99%)HP:0001141
Abnormal ERG
Frequent (30-79%)HP:0000512
Abnormal full-field electroretinogram
Frequent (30-79%)HP:0030466
Abnormality of neuronal migration
Frequent (30-79%)HP:0002269
Bifid skull
Frequent (30-79%)HP:0002084
Epilepsy
Frequent (30-79%)HP:0001250
Eye poking
Frequent (30-79%)HP:0001483
Hyperopia
Frequent (30-79%)HP:0000540
Hypo/aplastic vermis
Frequent (30-79%)HP:0006817
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Keratoconus
Frequent (30-79%)HP:0000563
Lens opacities
Frequent (30-79%)HP:0000518
Paralysis or weakness of one side of body
Frequent (30-79%)HP:0004374
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Photophobia
Frequent (30-79%)HP:0000613
Sluggish pupillary reaction
Frequent (30-79%)HP:0030211
ASD
Occasional (5-29%)HP:0000729
Delayed motor milestones
Occasional (5-29%)HP:0001270
Hearing impairment
Occasional (5-29%)HP:0000365
Mental and motor retardation
Occasional (5-29%)HP:0001263
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249
Optic disc pallor
Occasional (5-29%)HP:0000543
Optic nerve head drusen
Occasional (5-29%)HP:0012426
Quick Facts
- SNOMED CT
- 193413001
- UMLS CUI
- C0339527
- Fully Specified Name
- Leber's amaurosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.