Calf muscle pseudohypertrophy
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Metabolic myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
2
|
0.010 |
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 |
Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
43
|
0.300 |
None |
|
0 |
|
|
|
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gross motor impairment
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness in upper limbs
|
phenotype |
|
Finding
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cobblestone Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality iris morphology
|
disease |
|
Anatomical Abnormality
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Occipital Encephalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
33
|
9
|
0.100 |
None |
|
0 |
|
|
|
Congenital meningocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse white matter abnormalities
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
34
|
4
|
0.100 |
None |
|
0 |
|
|
|
Fukuyama Type Congenital Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
29
|
0.300 |
None |
|
0 |
|
|
|
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 |
Loss of ability to walk
|
phenotype |
|
Finding
|
37
|
11
|
0.100 |
None |
|
0 |
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Myasthenias
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Limb-girdle muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Myopathic facies
|
phenotype |
|
Finding
|
44
|
15
|
0.100 |
None |
|
0 |
|
|
|
Type 1 muscle fiber predominance
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|