Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathy, CTCAE 3.0
|
phenotype |
|
Finding
|
14
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Ventricular Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
96
|
19
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
1
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Ketonuria
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal palmar creases
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Oropharyngeal Dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
43
|
8
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
1
|
|
|
Hyperactive deep tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
32
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Poor coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
26
|
8
|
0.100 |
None |
|
0 |
|
|
|
Prolonged QTc Interval, CTCAE
|
phenotype |
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
24
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Elevated plasma acylcarnitine levels
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Drooling
|
phenotype |
Stomatognathic Diseases
|
Finding
|
95
|
14
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal thalamic MRI signal intensity
|
phenotype |
|
Finding
|
4
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.100 |
None |
|
0 |
|
|
|