SPINAL MUSCULAR ATROPHY, JOKELA TYPE
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.710 |
None |
1.000 |
12 |
2
|
2014 |
2018 |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
13 |
3
|
2014 |
2018 |
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
11 |
2
|
2014 |
2018 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.500 |
None |
0.955 |
22 |
3
|
2014 |
2020 |
Frontotemporal Dementia With Motor Neuron Disease
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
13
|
4
|
0.360 |
None |
1.000 |
6 |
1
|
2014 |
2018 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.200 |
None |
1.000 |
11 |
2
|
2014 |
2020 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Facial Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Sign or Symptom
|
44
|
2
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Social disinhibition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
56
|
5
|
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 |
|
|
|
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
|
0 |
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Increased intramyocellular lipid droplets
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Physiologic disinhibition
|
phenotype |
|
Organ or Tissue Function
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of respiratory muscles
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Global brain atrophy
|
phenotype |
|
Pathologic Function
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.100 |
None |
|
0 |
|
|
|
Quadriparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Increased mitochondrial number
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Abnormal mitochondrial morphology
|
phenotype |
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|