Elevated plasma acylcarnitine levels
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Carnitine-Acylcarnitine Translocase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
16
|
0.770 |
definitive |
1.000 |
22 |
16
|
1997 |
2019 |
Elevated creatine kinase after exercise
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Peroxisome Biogenesis Disorder, Complementation Group C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
2
|
0.030 |
None |
1.000 |
3 |
|
1994 |
2012 |
Dicarboxylic aciduria
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Carnitine palmitoyl transferase 2 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
29
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2006 |
Sudden episodic apnea
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Disease or Syndrome
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
118
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Carnitine deficiency
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiopulmonary Arrest
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
34
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Oliguria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle Cramp
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
26
|
8
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Phobic anxiety disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
31
|
7
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Oral infection
|
group |
Infections; Respiratory Tract Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
35
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Behavioral variant of frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
35
|
10
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
36
|
15
|
0.100 |
None |
|
0 |
|
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fasting Hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
1
|
0.100 |
None |
|
0 |
|
|
|
Chronic ulcerative colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
40
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Peroxisome biogenesis disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
41
|
38
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hypothermia, natural
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|
Premature ventricular contractions
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
56
|
13
|
0.100 |
None |
|
0 |
|
|
|