Myopathies, Nemaline
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
42
|
0.050 |
None |
1.000 |
5 |
|
2014 |
2019 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Kleine-Levin Syndrome
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the diaphragm
|
phenotype |
|
Anatomical Abnormality
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased variability in muscle fiber diameter
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Nocturnal hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Severe muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Multiple prenatal fractures
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Bulbar palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
5
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of respiratory muscles
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of distal limb muscles
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Fatiguable weakness of proximal limb muscles
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Nemaline bodies
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory insufficiency due to muscle weakness
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Adducted thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|