Intermittent episodes of respiratory insufficiency due to muscle weakness
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Staring gaze
|
phenotype |
|
Finding
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Narrow jaw
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
EEG with polyspike wave complexes
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: impaired neuromuscular transmission
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Choking episodes
|
phenotype |
|
Pathologic Function
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Coronary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
20
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2020 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Peripheral Arterial Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
319
|
128
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoplasia of the optic nerve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
59
|
14
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Behcet Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
502
|
243
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
|
|
|
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.100 |
None |
|
0 |
|
|
|
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1996 |