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Autosomal dominant optic atrophy and cataract
disorderSNOMED 719517009CUI C1833809
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blind spot
Always present (100%)HP:0000575
Poor vision
Always present (100%)HP:0000505
Decreased visual acuity
Very frequent (80-99%)HP:0007663
Optic atrophy
Very frequent (80-99%)HP:0000648
Absent deep tendon reflexes
Frequent (30-79%)HP:0001284
Areflexia in lower limbs
Frequent (30-79%)HP:0002522
Ataxia
Frequent (30-79%)HP:0001251
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Cataract
Frequent (30-79%)HP:0000518
Central scotoma
Frequent (30-79%)HP:0000603
Deafness
Frequent (30-79%)HP:0000365
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Muscle spasm
Frequent (30-79%)HP:0003394
Optic disc pallor
Frequent (30-79%)HP:0000543
Pain
Frequent (30-79%)HP:0012531
Paresthesia
Frequent (30-79%)HP:0003401
Posterior cortical cataract
Frequent (30-79%)HP:0010924
Postural tremor
Frequent (30-79%)HP:0002174
Sensory impairment
Frequent (30-79%)HP:0003474
Unsteady walk
Frequent (30-79%)HP:0002317
Abnormality of the thumbs
Occasional (5-29%)HP:0001172
Absent Achilles reflex
Occasional (5-29%)HP:0003438
Anterior cortical cataract
Occasional (5-29%)HP:0007795
Anterior subcapsular cataract
Occasional (5-29%)HP:0010923
Blindness
Occasional (5-29%)HP:0000618
Blue yellow color blindness
Occasional (5-29%)HP:0000552
Cerulean cataract
Occasional (5-29%)HP:0007976
Diminished deep tendon reflexes
Occasional (5-29%)HP:0001315
Displaced index finger
Occasional (5-29%)HP:0009468
Dyslexia
Occasional (5-29%)HP:0010522
Related Conditions
Quick Facts
- SNOMED CT
- 719517009
- UMLS CUI
- C1833809
- Fully Specified Name
- Autosomal dominant optic atrophy and cataract (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.