Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal posturing
Always present (100%)HP:0002533
Increased reflexes
Always present (100%)HP:0001347
Intrinsic hand muscle atrophy
Always present (100%)HP:0008954
Mental retardation, mild
Always present (100%)HP:0001256
Abnormal cochlea morphology
Frequent (30-79%)HP:0000375
Abnormal visual evoked responses
Frequent (30-79%)HP:0000649
Abnormality of somatosensory evoked potentials
Frequent (30-79%)HP:0007377
Ankle clonus
Frequent (30-79%)HP:0011448
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Corticospinal signs
Frequent (30-79%)HP:0007256
Dystonic disease
Frequent (30-79%)HP:0001332
Extensor plantar responses
Frequent (30-79%)HP:0003487
Generalised brain degeneration
Frequent (30-79%)HP:0002283
Generalised dystonia
Frequent (30-79%)HP:0007325
Hyperactive deep tendon reflexes
Frequent (30-79%)HP:0006801
Intellectual deterioration
Frequent (30-79%)HP:0001268
Interictal vestibular dysfunction
Frequent (30-79%)HP:0001751
No auditory brainstem response
Frequent (30-79%)HP:0004463
Optic atrophy
Frequent (30-79%)HP:0000648
Oromandibular dystonia
Frequent (30-79%)HP:0012048
Poor vision
Frequent (30-79%)HP:0000505
Postlingual sensorineural hearing impairment
Frequent (30-79%)HP:0008596
Prelingual sensorineural hearing impairment
Frequent (30-79%)HP:0000399
Sensorineural deafness
Frequent (30-79%)HP:0000407
Agammaglobulinaemia
Occasional (5-29%)HP:0004432
Apraxia
Occasional (5-29%)HP:0002186
Aspiration pneumonia
Occasional (5-29%)HP:0011951
Caudate degeneration
Occasional (5-29%)HP:0002340
Central scotoma
Occasional (5-29%)HP:0000603
Colour vision defects
Occasional (5-29%)HP:0000551
Quick Facts
- SNOMED CT
- 702423009
- UMLS CUI
- C0796074
- Fully Specified Name
- Deafness-dystonia-optic neuronopathy 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.