Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Deglutition disorder
Very frequent (80-99%)HP:0002015
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Fatigable weakness of limb muscles
Very frequent (80-99%)HP:0003473
Feeding difficulties
Very frequent (80-99%)HP:0011968
Flaccid neck
Very frequent (80-99%)HP:0000467
Frontalis muscle weakness
Very frequent (80-99%)HP:0004661
Intermittent episodes of respiratory insufficiency due to muscle weakness
Very frequent (80-99%)HP:0004889
Poor sucking
Very frequent (80-99%)HP:0002033
Proximal neurogenic muscle weakness
Very frequent (80-99%)HP:0003701
Sudden episodic apnea
Very frequent (80-99%)HP:0002882
Arthrogryposis multiplex
Frequent (30-79%)HP:0002804
Ataxia
Frequent (30-79%)HP:0001251
Blue discoloration of the skin
Frequent (30-79%)HP:0000961
Bulbar muscle weakness
Frequent (30-79%)HP:0001283
Central sleep apnea
Frequent (30-79%)HP:0010536
Choking episodes
Frequent (30-79%)HP:0030842
Easy fatigability
Frequent (30-79%)HP:0003388
EMG: impaired neuromuscular transmission
Frequent (30-79%)HP:0100285
Episodic apnea induced by febrile illness or stress
Frequent (30-79%)HP:0002872
Episodic respiratory distress
Frequent (30-79%)HP:0004885
Eye muscle paralysis
Frequent (30-79%)HP:0000602
Gait disturbance
Frequent (30-79%)HP:0001288
Hypernasal voice
Frequent (30-79%)HP:0001611
Less than 10 fetal movements in 12 hours
Frequent (30-79%)HP:0001558
Mental deficiency
Frequent (30-79%)HP:0001249
Muscle fiber atrophy
Frequent (30-79%)HP:0100295
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
Nasal regurgitation
Frequent (30-79%)HP:0011469
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Spinal neuroarthropathy
Frequent (30-79%)HP:0008443
Related Conditions
Congenital end-plate acetylcholine receptor deficiency(child)
Familial infantile myasthenia(child)
Acetylcholine resynthesis deficiency(child)
Congenital end-plate acetylcholinesterase deficiency(child)
Congenital myasthenic syndrome with glycosylation defect due to ALG14 gene mutation(child)
Genetically determined myasthenia(parent)
Congenital disease(parent)
Quick Facts
- SNOMED CT
- 230672006
- UMLS CUI
- C0751882
- Fully Specified Name
- Congenital myasthenic syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.