Gynecomastia
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Ataxia with vitamin E deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
32
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
COENZYME Q10 DEFICIENCY
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
3
|
0.330 |
strong |
1.000 |
5 |
|
2008 |
2018 |
Kearns-Sayre syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.100 |
None |
1.000 |
10 |
1
|
2008 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.150 |
None |
1.000 |
5 |
2
|
2008 |
2019 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
1
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Slurred speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
39
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Brisk reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
31
|
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 |
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.140 |
None |
1.000 |
4 |
|
2010 |
2020 |
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 |
Mitochondrial encephalopathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |