Oculopharyngeal myopathy with leukoencephalopathy 1
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Genes See tests for all associated and related genes
Also known as: OPML1, NUTM2B-AS1
Summary: NUTM2B antisense RNA 1
Clinical features
Help- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastrointestinal dysmotility
Gastrointestinal dysmotility
- MedGen UID: 324638
- Concept ID: C1836923
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- External ophthalmoplegia
External ophthalmoplegia
- MedGen UID: 57662
- Concept ID: C0162292
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- External ophthalmoplegia
- Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Weakness of facial musculature
Weakness of facial musculature
- MedGen UID: 98103
- Concept ID: C0427055
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal muscle weakness
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
- Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Respiratory failure
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