Myasthenic syndrome, congenital, 22
- Synonyms
- PREPL DEFICIENCY
Available tests
Clinical tests (19 available)
Clinical features
Help- Abnormality of head or neck
- Tented upper lip vermilion
Tented upper lip vermilion
- MedGen UID: 326574
- Concept ID: C1839767
- Finding: Finding
Abnormality of head or neck
- Tented upper lip vermilion
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
- Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
- Abnormality of the genitourinary system
- Cystinuria
Cystinuria
- MedGen UID: 8226
- Concept ID: C0010691
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Cystinuria
- Abnormality of the immune system
- Anti-acetylcholine receptor antibody positivity
Anti-acetylcholine receptor antibody positivity
- MedGen UID: 868186
- Concept ID: C4022578
- Finding: Finding
Abnormality of the immune system
- Anti-acetylcholine receptor antibody positivity
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Motor delay
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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