Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
3
|
0.710 |
None |
1.000 |
7 |
3
|
2010 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
2 |
4
|
2015 |
2017 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.160 |
None |
1.000 |
6 |
2
|
2010 |
2018 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2017 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.110 |
None |
1.000 |
4 |
2
|
2010 |
2018 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hammer Toe
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
46
|
11
|
0.100 |
None |
|
0 |
|
|
|
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
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 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Abnormal corpus callosum morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
70
|
10
|
0.100 |
None |
|
0 |
|
|
|