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Neurogenic muscle weakness, ataxia and retinitis pigmentosa
disorderSNOMED 237984008CUI C1328349
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal basal ganglia MRI signal intensity
Frequent (30-79%)HP:0012751
Abnormal visual field test
Frequent (30-79%)HP:0030588
Ataxia
Frequent (30-79%)HP:0001251
Blindness
Frequent (30-79%)HP:0000618
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Constriction of peripheral visual field
Frequent (30-79%)HP:0001133
Corticospinal tract atrophy
Frequent (30-79%)HP:0007117
Decreased body height
Frequent (30-79%)HP:0004322
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Epilepsy
Frequent (30-79%)HP:0001250
Extensor plantar responses
Frequent (30-79%)HP:0003487
Gait ataxia, progressive
Frequent (30-79%)HP:0007240
Headache
Frequent (30-79%)HP:0002315
Hypoacusis
Frequent (30-79%)HP:0000365
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Irritable mood
Frequent (30-79%)HP:0000737
Mental retardation, severe
Frequent (30-79%)HP:0010864
Muscle spasm
Frequent (30-79%)HP:0003394
Myoclonic spasms
Frequent (30-79%)HP:0003739
Optic disc pallor
Frequent (30-79%)HP:0000543
Progressive dementia
Frequent (30-79%)HP:0000726
Proximal neurogenic muscle weakness
Frequent (30-79%)HP:0003701
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Rod-cone dystrophy
Frequent (30-79%)HP:0000510
RPE irregularity
Frequent (30-79%)HP:0007814
Sensory neuropathy
Frequent (30-79%)HP:0000763
Tortuous retinal arterioles
Frequent (30-79%)HP:0001136
Mitochondrial myopathy
HP:0003737
Myopathy
HP:0003198
Noninflammatory retina disease
HP:0000488
Related Conditions
Disorder of pyruvate metabolism and mitochondrial respiratory chain(parent)
Inherited metabolic disorder of nervous system(parent)
Chronic musculoskeletal disorder(parent)
Chronic nervous system disease(parent)
Chronic metabolic disease(parent)
Myoneural disorder(parent)
Retinitis pigmentosa(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary ataxia(parent)
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease(parent)
Quick Facts
- SNOMED CT
- 237984008
- UMLS CUI
- C1328349
- Fully Specified Name
- Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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.