MYOPATHY, MYOFIBRILLAR, 7
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.400 |
None |
1.000 |
2 |
2
|
2016 |
2016 |
Upper limb amyotrophy
|
disease |
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Atrophy of tongue
|
disease |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Lower limb amyotrophy
|
phenotype |
|
Finding
|
19
|
4
|
0.100 |
None |
|
0 |
|
|
|
Difficulty standing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
21
|
14
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness in upper limbs
|
phenotype |
|
Finding
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Toe-walking gait
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Myofibrillar Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
61
|
24
|
0.300 |
None |
|
0 |
|
|
|
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.300 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Flexion contracture - elbow
|
disease |
|
Acquired Abnormality
|
73
|
14
|
0.100 |
None |
|
0 |
|
|
|
Paraparesis, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
75
|
37
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |