Nemaline myopathy 6
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
5
|
0.700 |
None |
1.000 |
2 |
5
|
2003 |
2010 |
Nemaline Myopathy, Childhood Onset
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neuromuscular dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased muscle lipid content
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of bulbar muscles
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Nemaline bodies
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Reduced vital capacity
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Breech Presentation
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
30
|
11
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Slender build
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bulbar signs
|
phenotype |
|
Finding
|
33
|
1
|
0.100 |
None |
|
0 |
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.100 |
None |
|
0 |
|
|
|
Muscle weakness of limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
|
|
|
Type 1 muscle fiber predominance
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Myopathies, Nemaline
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
42
|
0.040 |
None |
1.000 |
4 |
1
|
2010 |
2020 |
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|
Neck muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased variability in muscle fiber diameter
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking up stairs
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
51
|
7
|
0.100 |
None |
|
0 |
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Neuromuscular inhibition
|
disease |
|
Disease or Syndrome
|
72
|
2
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Winged scapula
|
phenotype |
|
Finding
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|