Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of radius
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
37
|
5
|
0.100 |
None |
|
0 |
3
|
|
|
Calf muscle hypertrophy
|
phenotype |
|
Finding
|
46
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nocturnal hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory insufficiency due to muscle weakness
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Intermittent episodes of respiratory insufficiency due to muscle weakness
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced forced vital capacity
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Nonprogressive
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
3
|
|
|
Fatigable weakness of bulbar muscles
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Type 1 muscle fiber atrophy
|
disease |
|
Disease or Syndrome
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Short hard palate
|
disease |
|
Anatomical Abnormality
|
7
|
4
|
0.100 |
None |
|
0 |
3
|
|
|
Type 1 and type 2 muscle fiber minicore regions
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Type 1 fibers relatively smaller than type 2 fibers
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the rib cage
|
disease |
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Bulbar palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
5
|
0.100 |
None |
|
0 |
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|