CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.760 |
strong |
1.000 |
23 |
14
|
2004 |
2018 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.700 |
strong |
1.000 |
0 |
13
|
2004 |
2017 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.200 |
None |
0.957 |
5 |
1
|
2004 |
2019 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
179
|
|
0.180 |
None |
1.000 |
0 |
|
2010 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
44
|
|
0.110 |
None |
1.000 |
0 |
1
|
2013 |
2013 |
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
212
|
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Limb fasciculations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Areflexia of lower limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased motor nerve conduction velocity
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
242
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired temperature sensation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Upper limb amyotrophy
|
disease |
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic axonal neuropathy
|
disease |
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: neuropathic changes
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: chronic denervation signs
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Paresis of extensor muscles of the big toe
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Ulnar claw
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
105
|
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
308
|
|
0.100 |
None |
|
0 |
|
|
|
Claw hand
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
|
0.100 |
None |
|
0 |
|
|
|