Myasthenic syndrome, congenital, postsynaptic slow-channel
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
|
disease |
|
Disease or Syndrome
|
3
|
5
|
0.600 |
strong |
1.000 |
3 |
4
|
1999 |
2004 |
Myasthenic Syndrome, Congenital, Fast-Channel
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Prolonged miniature endplate currents
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic heart
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
|
disease |
|
Disease or Syndrome
|
4
|
8
|
0.600 |
strong |
1.000 |
6 |
8
|
1995 |
2006 |
Multiple pterygia
|
phenotype |
Eye Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cervical curvature
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
13
|
0.700 |
None |
1.000 |
7 |
3
|
1982 |
2018 |
Orthopnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of muscle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased miniature endplate potentials
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of neck muscles
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Type 2 muscle fiber atrophy
|
phenotype |
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Intermittent episodes of respiratory insufficiency due to muscle weakness
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased size of nerve terminals
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Ankle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Hip flexor weakness
|
phenotype |
|
Finding
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of masticatory muscle
|
phenotype |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Triceps weakness
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Weakness of long finger extensor muscles
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Thoracic kyphoscoliosis
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Weakness of the intrinsic hand muscles
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced vital capacity
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|