Impaired proprioception
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
15
|
3
|
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 |
|
|
|
Oculomotor apraxia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
92
|
14
|
0.200 |
None |
1.000 |
12 |
|
2006 |
2019 |
Progressive supranuclear palsy
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
176
|
52
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2013 |
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
23
|
240
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
1
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2007 |
Lymphedema, microcephaly and chorioretinopathy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
23
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Atrophic
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
58
|
1
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2008 |
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2018 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.500 |
moderate |
0.952 |
21 |
3
|
1998 |
2018 |
Amyotrophic Lateral Sclerosis 4, Juvenile
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
8
|
8
|
0.770 |
None |
1.000 |
20 |
8
|
2004 |
2018 |
Juvenile amyotrophic lateral sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.040 |
None |
1.000 |
4 |
|
1998 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
25
|
10
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2006 |
Amyotrophic Lateral Sclerosis, Sporadic
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
173
|
90
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.100 |
None |
|
0 |
|
|
|
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.100 |
None |
1.000 |
13 |
|
2008 |
2019 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.050 |
None |
1.000 |
5 |
|
2013 |
2018 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
4 |
4
|
2004 |
2009 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2014 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2009 |