Myasthenic syndrome, congenital, 25, presynaptic
- Synonyms
- Myasthenic syndrome, congenital, 25
Summary
Available tests
Clinical tests (10 available)
Clinical features
Help- Abnormality of head or neck
- Myopathic facies
Myopathic facies
- MedGen UID: 90695
- Concept ID: C0332615
- Finding: Finding
Abnormality of head or neck
- Myopathic facies
- Abnormality of prenatal development or birth
- Decreased fetal movement
Decreased fetal movement
- MedGen UID: 68618
- Concept ID: C0235659
- Finding: Finding
Abnormality of prenatal development or birth
- Decreased fetal movement
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- Limited extraocular movements
Limited extraocular movements
- MedGen UID: 388060
- Concept ID: C1858427
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Limited extraocular movements
- Abnormality of the musculoskeletal system
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- MedGen UID: 892749
- Concept ID: C4021728
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized amyotrophy
Generalized amyotrophy
- MedGen UID: 234650
- Concept ID: C1389113
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Severe muscular hypotonia
Severe muscular hypotonia
- MedGen UID: 326544
- Concept ID: C1839630
- Finding: Finding
Abnormality of the musculoskeletal system
- Spinal rigidity
Spinal rigidity
- MedGen UID: 346721
- Concept ID: C1858025
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Decreased compound muscle action potential amplitude
Decreased compound muscle action potential amplitude
- MedGen UID: 908357
- Concept ID: C4230625
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to sit
Delayed ability to sit
- MedGen UID: 1368737
- Concept ID: C4476710
- Finding: Finding
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Areflexia
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