Central Core Myopathy (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
69
|
1.000 |
None |
1.000 |
12 |
69
|
1993 |
2019 |
Malignant hyperpyrexia due to anesthesia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
1
|
6
|
0.900 |
strong |
0.958 |
26 |
6
|
1990 |
2020 |
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
16
|
0.800 |
None |
1.000 |
5 |
16
|
2002 |
2019 |
Malignant hyperthermia susceptibility type 1
|
disease |
Pathological Conditions, Signs and Symptoms
|
Finding
|
1
|
11
|
0.700 |
strong |
1.000 |
3 |
11
|
1991 |
2017 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
6
|
45
|
0.440 |
None |
1.000 |
0 |
12
|
2007 |
2018 |
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
limited |
|
0 |
2
|
|
|
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
38
|
0.200 |
None |
0.960 |
14 |
3
|
2005 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
37
|
63
|
0.200 |
None |
1.000 |
0 |
9
|
1991 |
2019 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
25
|
0.130 |
None |
1.000 |
1 |
4
|
2016 |
2020 |
Rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
13
|
14
|
0.110 |
None |
1.000 |
1 |
1
|
2002 |
2017 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
92
|
0.110 |
None |
1.000 |
0 |
1
|
2007 |
2007 |
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
14
|
0.110 |
None |
1.000 |
0 |
2
|
2019 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
335
|
611
|
0.100 |
None |
1.000 |
12 |
2
|
1973 |
2013 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
336
|
579
|
0.100 |
None |
1.000 |
12 |
5
|
1973 |
2013 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
162
|
240
|
0.100 |
None |
1.000 |
12 |
1
|
1973 |
2013 |
Early severe fetal akinesia sequence
|
phenotype |
|
Finding
|
12
|
15
|
0.100 |
None |
1.000 |
1 |
2
|
2020 |
2020 |
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
39
|
59
|
0.100 |
None |
|
0 |
2
|
|
|
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
|
disease |
|
Finding
|
1
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Proximal amyotrophy
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
303
|
505
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive distal muscle weakness
|
phenotype |
|
Finding
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
9
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
54
|
69
|
0.100 |
None |
|
0 |
1
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
37
|
49
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
34
|
0.100 |
None |
|
0 |
1
|
|
|