MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.800 |
None |
1.000 |
4 |
2
|
1996 |
2006 |
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 |
strong |
1.000 |
2 |
4
|
2006 |
2008 |
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
strong |
1.000 |
4 |
5
|
2001 |
2008 |
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
strong |
1.000 |
3 |
1
|
2001 |
2008 |
Myasthenic Syndromes, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
40
|
0.520 |
limited |
1.000 |
3 |
1
|
2002 |
2017 |
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
|
disease |
|
Disease or Syndrome
|
4
|
8
|
0.300 |
strong |
1.000 |
1 |
|
2001 |
2001 |
Todd Paralysis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Paralysed
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
68
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Myasthenic Syndromes, Congenital, Slow Channel
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
|
0 |
|
|
|
Myasthenic Syndrome, Congenital, Fast-Channel
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.300 |
None |
|
0 |
|
|
|
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
Congenital Myasthenic Syndromes, Postsynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.300 |
None |
|
0 |
|
|
|
Congenital Myasthenic Syndromes, Presynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
|
0.300 |
None |
|
0 |
|
|
|
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Decreased miniature endplate potentials
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Type 1 muscle fiber predominance
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic finger
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Weakness of the intrinsic hand muscles
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Increased susceptibility to fractures
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Easy fatigability
|
phenotype |
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|