Myasthenic syndrome, congenital, 23, presynaptic
Available tests
Clinical tests (15 available)
Clinical features
Help- Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Pes cavus
- Abnormality of the digestive system
- Poor suck
Poor suck
- MedGen UID: 324693
- Concept ID: C1837142
- Finding: Finding
Abnormality of the digestive system
- Poor suck
- Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
- Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
Calf muscle hypertrophy
- MedGen UID: 335868
- Concept ID: C1843057
- Finding: Finding
Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased jitter at single fiber EMG
Increased jitter at single fiber EMG
- MedGen UID: 866698
- Concept ID: C4021045
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Neck muscle weakness
Neck muscle weakness
- MedGen UID: 66808
- Concept ID: C0240479
- Finding: Finding
Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
- Abnormality of the nervous system
- Bulbar palsy
Bulbar palsy
- MedGen UID: 898626
- Concept ID: C4082299
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Easy fatigability
Easy fatigability
- MedGen UID: 373253
- Concept ID: C1837098
- Finding: Finding
Abnormality of the nervous system
- Fatigable weakness
Fatigable weakness
- MedGen UID: 451076
- Concept ID: C0947912
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Bulbar palsy
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