Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Gait imbalance
|
phenotype |
|
Finding
|
57
|
24
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
3-Methylglutaconic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Myocardial Reperfusion Injury
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
226
|
|
0.200 |
None |
1.000 |
2 |
|
2014 |
2015 |
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2018 |
Abnormality of the subarachnoid space
|
phenotype |
|
Anatomical Abnormality
|
3
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Thickened nuchal skin fold
|
phenotype |
|
Finding
|
58
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Calcification of the aorta
|
phenotype |
|
Pathologic Function
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hearing abnormality
|
disease |
|
Finding
|
24
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Oxidative Phosphorylation Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
1 |
2
|
2018 |
2018 |
Isolated ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |