CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
disease |
|
Disease or Syndrome
|
9
|
3
|
0.400 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Periodic paralysis with later-onset distal motor neuropathy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Isolated ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Kearns-Sayre syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
5
|
0.300 |
None |
|
0 |
|
|
|
Reperfusion Injury
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Injury or Poisoning
|
300
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Histiocytoid Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
3
|
0.100 |
None |
1.000 |
2 |
1
|
2009 |
2016 |
Optic Neuropathy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Progressive intervertebral space narrowing
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Electrocardiogram atrioventricular block complete heart block
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal aortic valve physiology
|
disease |
|
Disease or Syndrome
|
4
|
12
|
0.100 |
None |
|
0 |
10
|
|
|
Abnormal mitral valve physiology
|
phenotype |
|
Anatomical Abnormality
|
4
|
10
|
0.100 |
None |
|
0 |
10
|
|
|
Ragged-red muscle fibers
|
phenotype |
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.100 |
None |
|
0 |
2
|
|
|
Complete atrioventricular block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
403
|
96
|
0.100 |
None |
|
0 |
|
|
|
Anterior hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Chronic progressive external ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
50
|
13
|
0.100 |
None |
|
0 |
|
|
|