Myopathy, Centronuclear, 1
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.600 |
None |
1.000 |
2 |
2
|
2006 |
2009 |
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.600 |
None |
1.000 |
1 |
|
2006 |
2006 |
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.530 |
moderate |
1.000 |
4 |
|
2008 |
2019 |
Congenital Structural Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.310 |
None |
1.000 |
1 |
|
2006 |
2006 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autosomal Recessive Centronuclear Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.300 |
None |
|
0 |
|
|
|
Tubular Aggregate Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
67
|
5
|
0.300 |
None |
|
0 |
|
|
|
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
29
|
140
|
0.300 |
None |
|
0 |
|
|
|
Autosomal Dominant Myotubular Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
|
0 |
|
|
|
Type 1 muscle fiber predominance
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Exercise-induced myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
37
|
4
|
0.100 |
None |
|
0 |
|
|
|
Large for gestational age
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
43
|
10
|
0.100 |
None |
|
0 |
|
|
|
Calf muscle hypertrophy
|
phenotype |
|
Finding
|
46
|
5
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Easy fatigability
|
phenotype |
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly at birth
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
12
|
6
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Areflexia of lower limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
24
|
4
|
0.100 |
None |
|
0 |
|
|
|
Spontaneous abortion
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
188
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the foot musculature
|
phenotype |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|