Muscle fiber tubular inclusions
|
phenotype |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal platelets
|
phenotype |
Hemic and Lymphatic Diseases
|
Cell or Molecular Dysfunction
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Recessive Centronuclear Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Wide nasal base
|
phenotype |
|
Finding
|
12
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Proximal amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Relapsing Fever
|
disease |
Infections
|
Disease or Syndrome
|
48
|
2
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
CUI: |
C0037763 |
Disease: |
Spasm
|
Spasm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
9
|
0.100 |
None |
|
0 |
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.300 |
None |
|
0 |
|
|
|
Abnormal delivery
|
phenotype |
|
Pathologic Function
|
32
|
37
|
0.100 |
None |
|
0 |
1
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
1
|
|
|
Frequent falls
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital Structural Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
|
0 |
|
|
|
Range of joint movement increased
|
phenotype |
|
Finding
|
30
|
46
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Recurrent fevers
|
phenotype |
|
Sign or Symptom
|
48
|
4
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Autosomal Dominant Myotubular Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
|
0 |
|
|
|
Dyslexia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
118
|
30
|
0.100 |
None |
|
0 |
|
|
|