Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Limitation of joint mobility
|
phenotype |
|
Finding
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Oropharyngeal Dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
43
|
8
|
0.100 |
None |
|
0 |
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.100 |
None |
|
0 |
|
|
|
LETHAL CONGENITAL CONTRACTURE SYNDROME 8
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.710 |
limited |
1.000 |
3 |
2
|
2014 |
2020 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2016 |
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.020 |
None |
1.000 |
2 |
1
|
2008 |
2016 |
Nephrogenic Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
60
|
41
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Left Ventricular Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
403
|
67
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Polycystic Kidney, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
280
|
35
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Thyroid Nodule
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
150
|
17
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cholera
|
disease |
Infections
|
Disease or Syndrome
|
209
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cystic kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
89
|
1
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |