Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.060 |
None |
1.000 |
6 |
|
2013 |
2017 |
Myasthenic Syndrome
|
disease |
|
Disease or Syndrome
|
12
|
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2017 |
Lambert-Eaton Myasthenic Syndrome
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
37
|
1
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
alpha-Dystroglycanopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.310 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle eye brain disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
74
|
0.500 |
None |
1.000 |
1 |
|
2013 |
2013 |
Metabolic myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsy, Generalized
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
93
|
36
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Deformity of spine
|
disease |
|
Anatomical Abnormality
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Calf muscle pseudohypertrophy
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the brainstem
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Calf muscle hypertrophy
|
phenotype |
|
Finding
|
46
|
5
|
0.100 |
None |
|
0 |
|
|
|
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Dilated fourth ventricle
|
phenotype |
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar cyst
|
phenotype |
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Loss of ability to walk
|
phenotype |
|
Finding
|
37
|
11
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|