CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
strong |
1.000 |
3 |
8
|
2007 |
2013 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
6
|
0.700 |
None |
1.000 |
2 |
6
|
2007 |
2013 |
Autosomal recessive lower motor neuron disease with childhood onset
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Spinal Muscular Atrophy, Facioscapulohumeral Type
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Scapuloperoneal amyotrophy
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of large peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Distal Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
8
|
0.300 |
limited |
1.000 |
1 |
|
2007 |
2007 |
Motor Neuron Disease, Lower
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
23
|
7
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2013 |
Abnormal lower motor neuron morphology
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: neuropathic changes
|
phenotype |
|
Finding
|
28
|
5
|
0.100 |
None |
|
0 |
|
|
|
Rapidly progressive
|
phenotype |
|
Finding
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased motor nerve conduction velocity
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Hammer Toe
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
46
|
11
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking up stairs
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
51
|
7
|
0.100 |
None |
|
0 |
|
|
|
Contracture of joint of hand
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory insufficiency due to muscle weakness
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Sclerocystic Ovaries
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
144
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |