MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.600 |
None |
1.000 |
2 |
8
|
2012 |
2012 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.400 |
None |
1.000 |
15 |
1
|
2012 |
2020 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.310 |
None |
1.000 |
1 |
|
2014 |
2014 |
Muscular Dystrophy, Limb-Girdle, Type 1D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Myofibrillar Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
61
|
24
|
0.130 |
None |
1.000 |
3 |
1
|
2016 |
2016 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2020 |
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Increased variability in muscle fiber diameter
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
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 |
1
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|
Percussion Myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Pelvic girdle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gowers sign
|
phenotype |
|
Finding
|
54
|
8
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Difficulty walking up stairs
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
51
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Muscle fiber splitting
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Loss of ability to walk
|
phenotype |
|
Finding
|
37
|
11
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of muscle fibers
|
phenotype |
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Skeletal muscle fibrosis
|
phenotype |
|
Pathologic Function
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Fatty replacement of skeletal muscle
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
1
|
|
|