Centrally nucleated skeletal muscle fibers
|
phenotype |
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Hypokinesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
47
|
2
|
0.100 |
None |
|
0 |
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
|
|
|
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.300 |
None |
|
0 |
|
|
|
Premature Birth
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
192
|
50
|
0.100 |
None |
|
0 |
|
|
|
Valgus deformities of feet
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
26
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.300 |
None |
|
0 |
|
|
|
Aneurysm of aortic root
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
39
|
15
|
0.100 |
None |
|
0 |
|
|
|
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.100 |
None |
|
0 |
|
|
|
Lumbar hyperlordosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
92
|
8
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Frequent falls
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
|
|
|
Tented upper lip vermilion
|
phenotype |
|
Finding
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Severe muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|