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Postsynaptic congenital myasthenic syndrome
ORPHA:98913 · Etiological subtype · Subtype of disorder
HPO 表現型（共 37 項）
Frequent (79-30%)(21)
- Abnormality of eye movementHP:0000496
- Abnormality of masticatory muscleHP:0410011
- Abnormality of the musculature of the upper limbsHP:0001446
- Decreased miniature endplate potentialsHP:0003402
- Decreased size of nerve terminalsHP:0003443
- Diminished deep tendon reflexHP:0001315
- Easy fatigabilityHP:0003388
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHP:0003403
- EMG: myopathic abnormalitiesHP:0003458
- Facial palsyHP:0010628
- Fatigable weakness of neck musclesHP:0030199
- High palateHP:0000218
- Muscle weaknessHP:0001324
- Neck flexor weaknessHP:0003722
- OphthalmoparesisHP:0000597
- PtosisHP:0000508
- Shoulder girdle muscle weaknessHP:0003547
- Skeletal muscle atrophyHP:0003202
- Type 1 muscle fiber predominanceHP:0003803
- Upper limb muscle weaknessHP:0003484
- Weakness of the intrinsic hand musclesHP:0009005
Occasional (29-5%)(16)
- Ankle weaknessHP:0031374
- CyanosisHP:0000961
- Delayed gross motor developmentHP:0002194
- DiplopiaHP:0000651
- DrowsinessHP:0002329
- Exertional dyspneaHP:0002875
- Fatigable weakness of respiratory musclesHP:0030196
- Hip flexor weaknessHP:0012515
- OrthopneaHP:0012764
- Reduced vital capacityHP:0002792
- Respiratory failureHP:0002878
- Restrictive ventilatory defectHP:0002091
- ScoliosisHP:0002650
- Thoracic kyphoscoliosisHP:0005659
- Triceps weaknessHP:0031108
- Weakness of long finger extensor musclesHP:0009077