presynaptic congenital myasthenic syndrome
MONDO:0700466Mondo
Findings
No curated finding names presynaptic congenital myasthenic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
67 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.
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- Fatigable weaknessHPOHP:0003473
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Frontalis muscle weaknessHPOHP:0004661
- Very frequent (80% to 99% of cases)
- Intermittent episodes of respiratory insufficiency due to muscle weaknessHPOHP:0004889
- Very frequent (80% to 99% of cases)
- Neck muscle weaknessHPOHP:0000467
- Very frequent (80% to 99% of cases)
- Poor suckHPOHP:0002033
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Sudden episodic apneaHPOHP:0002882
- Very frequent (80% to 99% of cases)
- Apneic episodes precipitated by illness, fatigue, stressHPOHP:0002872
- Frequent (30% to 79% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Frequent (30% to 79% of cases)
Reported absent (1)
- Anti-neuromuscular Junction acetylcholine receptor antibody positivityHPOHP:0030208
Show the remaining 55
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Bulbar palsyHPOHP:0001283
- Frequent (30% to 79% of cases)
- Central sleep apneaHPOHP:0010536
- Frequent (30% to 79% of cases)
- Choking episodesHPOHP:0030842
- Frequent (30% to 79% of cases)
- CyanosisHPOHP:0000961
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
- Narrower terms (10)
- congenital myasthenic syndrome 18
- congenital myasthenic syndrome 19
- congenital myasthenic syndrome 20
- congenital myasthenic syndrome 21
- congenital myasthenic syndrome 6
- congenital myasthenic syndrome 7
- congenital myasthenic syndrome 8
- myasthenic syndrome, congenital, 23, presynaptic
- myasthenic syndrome, congenital, 24, presynaptic
- myasthenic syndrome, congenital, 25, presynaptic