Carnitine deficiency
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Hypoketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Cyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Atrioventricular Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
63
|
17
|
0.100 |
None |
|
0 |
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated plasma acylcarnitine levels
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Sudden episodic apnea
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Disease or Syndrome
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated creatine kinase after exercise
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Dicarboxylic aciduria
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Childhood Burkitt Lymphoma
|
disease |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
477
|
7
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Burkitt Lymphoma
|
disease |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
556
|
13
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Adult Burkitt Lymphoma
|
disease |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
475
|
7
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
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 |
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
198
|
103
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
TARSAL-CARPAL COALITION SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
261
|
13
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
beta^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
156
|
44
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
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 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |