Slow pupillary light response
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the immune system
|
disease |
|
Pathologic Function
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory insufficiency due to muscle weakness
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
85
|
3
|
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 |
|
|
|
Hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Pathologic Function
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.100 |
None |
|
0 |
|
|
|
Recurrent lower respiratory tract infection
|
phenotype |
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Bilateral ptosis
|
phenotype |
Eye Diseases
|
Finding
|
50
|
14
|
0.100 |
None |
|
0 |
|
|
|
Type 2 muscle fiber atrophy
|
phenotype |
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Right Ventricular Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Distress Syndrome, Newborn
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Disease or Syndrome
|
177
|
37
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|