postsynaptic congenital myasthenic syndrome
MONDO:0020344Mondo
Findings
No curated finding names postsynaptic congenital myasthenic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
- Abnormality of masticatory muscleHPOHP:0410011
- Frequent (30% to 79% of cases)
- Abnormality of the musculature of the upper limbsHPOHP:0001446
- Frequent (30% to 79% of cases)
- Decreased miniature endplate potentialsHPOHP:0003402
- Frequent (30% to 79% of cases)
- Decreased size of nerve terminalsHPOHP:0003443
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- Easy fatigabilityHPOHP:0003388
- Frequent (30% to 79% of cases)
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Fatigable weakness of neck musclesHPOHP:0030199
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
Show the remaining 25
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Neck flexor weaknessHPOHP:0003722
- Frequent (30% to 79% of cases)
- OphthalmoparesisHPOHP:0000597
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Shoulder girdle muscle weaknessHPOHP:0003547
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
Where it sits
- Narrower terms (14)
- congenital myasthenic syndrome 10
- congenital myasthenic syndrome 11
- congenital myasthenic syndrome 16
- congenital myasthenic syndrome 17
- congenital myasthenic syndrome 19
- congenital myasthenic syndrome 1A
- congenital myasthenic syndrome 2A
- congenital myasthenic syndrome 2C
- congenital myasthenic syndrome 3A
- congenital myasthenic syndrome 3B
- congenital myasthenic syndrome 3C
- congenital myasthenic syndrome 4
- congenital myasthenic syndrome 8
- congenital myasthenic syndrome 9