Symptom Information: Sort according to HPO 

1
 (HPO:0045045) Elevated plasma acylcarnitine levels Very frequent [IBIS] 93.9% (n=214) 25200064 IBIS 3 / 7739
2
 (HPO:0003647) Electron transfer flavoprotein-ubiquinone oxidoreductase defect Very frequent [IBIS] 17912479 IBIS 2 / 7739
3
 (HPO:0003530) Glutaric acidemia Very frequent [IBIS] 17912479 IBIS 2 / 7739
4
 (HPO:0001324) Muscle weakness Frequent [IBIS] 45.4% (n=350) 25200064 IBIS 859 / 7739
5
 (HPO:0003150) Glutaric aciduria Frequent [IBIS] 25200064 IBIS 7 / 7739
6
 (HPO:0003219) Ethylmalonic aciduria Frequent [IBIS] 25200064 IBIS 5 / 7739
7
 (HPO:0001942) Metabolic acidosis Frequent [IBIS] 17912479 IBIS 81 / 7739
8
 (HPO:0010892) Abnormality of branched chain family amino acid metabolism Frequent [IBIS] 11746129 IBIS 2 / 7739
9
 (HPO:0002013) Vomiting Occasional [IBIS] 37.1% (n=350) 25200064 IBIS 191 / 7739
10
 (HPO:0002014) Diarrhea Occasional [IBIS] 21.1% (n=350) 25200064 IBIS 225 / 7739
11
 (HPO:0003326) Myalgia Occasional [IBIS] 17.1% (n=350) 25200064 IBIS 143 / 7739
12
 (HPO:0003546) Exercise intolerance Occasional [IBIS] 16.6% (n=350) 25200064 IBIS 62 / 7739
13
 (HPO:0002240) Hepatomegaly Occasional [IBIS] 8.6% (n=350) 25200064 IBIS 467 / 7739
14
 (HPO:0001943) Hypoglycemia Occasional [IBIS] 7.7% (n=350) 25200064 IBIS 131 / 7739
15
 (HPO:0002572) Episodic vomiting Rare [IBIS] 9.4% (n=350) 25200064 IBIS 12 / 7739
16
 (HPO:0003236) Elevated serum creatine phosphokinase Rare [IBIS] 7.1% (n=350) 25200064 IBIS 214 / 7739
17
 (HPO:0002015) Dysphagia Rare [IBIS] 6% (n=350) 25200064 IBIS 301 / 7739
18
 (HPO:0003198) Myopathy Rare [IBIS] 5.4% (n=350) 25200064 IBIS 151 / 7739
19
 (HPO:0001298) Encephalopathy Rare [IBIS] 4.6% (n=350) 25200064 IBIS 72 / 7739
20
 (HPO:0001259) Coma Rare [IBIS] 4.6% (n=350) 25200064 IBIS 65 / 7739
21
 (HPO:0001824) Weight loss Rare [IBIS] 4.3% (n=350) 25200064 IBIS 42 / 7739
22
 (HPO:0001987) Hyperammonemia Rare [IBIS] 3.4% (n=350) 25200064 IBIS 50 / 7739
23
 (OMIM) Lipid storage myopathy Rare [IBIS] 3.4% (n=350) 25200064 IBIS 4 / 7739
24
 (HPO:0009058) Increased muscle lipid content Rare [IBIS] 3.1% (n=350) 25200064 IBIS 6 / 7739
25
 (HPO:0002018) Nausea Rare [IBIS] 2.4% (n=350) 25200064 IBIS 44 / 7739
26
 (HPO:0006582) Reye syndrome-like episodes Rare [IBIS] 2.3% (n=350) 25200064 IBIS 5 / 7739
27
 (HPO:0003690) Limb muscle weakness Rare [IBIS] 2% (n=350) 25200064 IBIS 41 / 7739
28
 (HPO:0001254) Lethargy Rare [IBIS] 1.7% (n=350) 25200064 IBIS 104 / 7739
29
 (HPO:0001263) Global developmental delay Rare [IBIS] 1.7% (n=350) 25200064 IBIS 853 / 7739
30
 (HPO:0002878) Respiratory failure Rare [IBIS] 1.7% (n=350) 25200064 IBIS 57 / 7739
31
 (HPO:0003388) Easy fatigability Rare [IBIS] 1.4% (n=350) 25200064 IBIS 34 / 7739
32
 (HPO:0003201) Rhabdomyolysis Rare [IBIS] 1.4% (n=350) 25200064 IBIS 27 / 7739
33
 (HPO:0003324) Generalized muscle weakness Rare [IBIS] 1.4% (n=350) 25200064 IBIS 48 / 7739
34
 (HPO:0002017) Nausea and vomiting Rare [IBIS] 1.2% (n=350) 25200064 IBIS 134 / 7739
35
 (HPO:0003394) Muscle cramps Rare [IBIS] 1.2% (n=350) 25200064 IBIS 106 / 7739
36
 (HPO:0002094) Dyspnea Rare [IBIS] 1.2% (n=350) 25200064 IBIS 132 / 7739
37
 (HPO:0001945) Fever Rare [IBIS] 1.2% (n=350) 25200064 IBIS 218 / 7739
38
 (HPO:0001508) Failure to thrive Rare [IBIS] 1.2% (n=350) 25200064 IBIS 454 / 7739
39
 (HPO:0001410) Decreased liver function Rare [IBIS] 1.2% (n=350) 25200064 IBIS 59 / 7739
40
 (HPO:0001638) Cardiomyopathy Rare [IBIS] 1.2% (n=350) 25200064 IBIS 192 / 7739
41
 (HPO:0001325) Hypoglycemic coma Rare [IBIS] 0.9% (n=350) 25200064 IBIS 9 / 7739
42
 (HPO:0011015) Abnormality of blood glucose concentration Rare [IBIS] 0.9% (n=350) 25200064 IBIS 1 / 7739
43
 (MedDRA:10005555) Blood glucose decreased Rare [IBIS] 0.9% (n=350) 25200064 IBIS 1 / 7739
44
 (HPO:0001985) Hypoketotic hypoglycemia Rare [IBIS] 0.9% (n=350) 25200064 IBIS 11 / 7739
45
 (HPO:0003473) Fatigable weakness Rare [IBIS] 0.9% (n=350) 25200064 IBIS 39 / 7739
46
 (HPO:0002093) Respiratory insufficiency Rare [IBIS] 0.9% (n=350) 25200064 IBIS 410 / 7739
47
 (HPO:0001250) Seizures Rare [IBIS] 0.9% (n=350) 25200064 IBIS 1245 / 7739
48
 (HPO:0002910) Elevated hepatic transaminases Rare [IBIS] 0.9% (n=350) 25200064 IBIS 158 / 7739
49
 (HPO:0004386) Gastrointestinal inflammation Rare [IBIS] 0.9% (n=350) 25200064 IBIS 5 / 7739
50
 (HPO:0002098) Respiratory distress Rare [IBIS] 0.6% (n=350) 11746129 IBIS 75 / 7739
51
 (HPO:0002039) Anorexia Rare [IBIS] 0.6% (n=350) 25200064 IBIS 62 / 7739
52
 (HPO:0001695) Cardiac arrest Rare [IBIS] 0.6% (n=350) 25200064 IBIS 87 / 7739
53
 (MedDRA:10002523) Anion gap abnormal Rare [IBIS] 0.6% (n=350) 25200064 IBIS 1 / 7739
54
 (HPO:0001270) Motor delay Rare [IBIS] 0.6% (n=350) 25200064 IBIS 322 / 7739
55
 (HPO:0000716) Depression Rare [IBIS] 0.6% (n=350) 25200064 IBIS 99 / 7739
56
 (HPO:0001350) Slurred speech Rare [IBIS] 0.6% (n=350) 25200064 IBIS 16 / 7739
57
 (HPO:0002315) Headache Rare [IBIS] 0.6% (n=350) 25200064 IBIS 175 / 7739
58
 (HPO:0001337) Tremor Rare [IBIS] 0.6% (n=350) 25200064 IBIS 200 / 7739
59
 (HPO:0001635) Congestive heart failure Rare [IBIS] 0.6% (n=350) 25200064 IBIS 232 / 7739
60
 (HPO:0003128) Lactic acidosis Rare [IBIS] 0.6% (n=350) 25200064 IBIS 116 / 7739
61
 (HPO:0009073) Progressive proximal muscle weakness Rare [IBIS] 0.6% (n=350) 25200064 IBIS 8 / 7739
62
 (HPO:0100651) Type I diabetes mellitus Rare [IBIS] 0.6% (n=350) 25200064 IBIS 44 / 7739
63
 (HPO:0001639) Hypertrophic cardiomyopathy Rare [IBIS] 0.6% (n=350) 25200064 IBIS 137 / 7739
64
 (HPO:0001733) Pancreatitis Rare [IBIS] 0.6% (n=350) 25200064 IBIS 46 / 7739
65
 (HPO:0002273) Tetraparesis Rare [IBIS] 0.6% (n=350) 25200064 IBIS 15 / 7739
66
 (HPO:0030198) Fatigable weakness of distal limb muscles Rare [IBIS] 0.6% (n=350) 25200064 IBIS 1 / 7739
67
 (HPO:0100520) Oliguria Rare [IBIS] 0.3% (n=350) 25200064 IBIS 14 / 7739
68
 (HPO:0002919) Ketonuria Rare [IBIS] 0.3% (n=350) 25200064 IBIS 18 / 7739
69
 (OMIM) Acute metabolic decompensation Rare [IBIS] 0.3% (n=350) 25200064 IBIS 2 / 7739
70
 (HPO:0005692) Joint hyperflexibility Rare [IBIS] 0.3% (n=350) 25200064 IBIS 20 / 7739
71
 (HPO:0012432) Chronic fatigue Rare [IBIS] 0.3% (n=350) 25200064 IBIS 5 / 7739
72
 (HPO:0030199) Fatigable weakness of neck muscles Rare [IBIS] 0.3% (n=350) 25200064 IBIS 1 / 7739
73
 (HPO:0003418) Back pain Rare [IBIS] 0.3% (n=350) 25200064 IBIS 17 / 7739
74
 (HPO:0003365) Arthralgia of the hip Rare [IBIS] 0.3% (n=350) 25200064 IBIS 10 / 7739
75
 (HPO:0003738) Exercise-induced myalgia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 19 / 7739
76
 (HPO:0002445) Tetraplegia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 26 / 7739
77
 (HPO:0200085) Limb tremor Rare [IBIS] 0.3% (n=350) 25200064 IBIS 6 / 7739
78
 (HPO:0002066) Gait ataxia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 327 / 7739
79
 (HPO:0006957) Loss of ability to walk Rare [IBIS] 0.3% (n=350) 25200064 IBIS 7 / 7739
80
 (HPO:0000708) Behavioral abnormality Rare [IBIS] 0.3% (n=350) 25200064 IBIS 212 / 7739
81
 (HPO:0012075) Personality disorder Rare [IBIS] 0.3% (n=350) 25200064 IBIS 4 / 7739
82
 (HPO:0005216) Chewing difficulties Rare [IBIS] 0.3% (n=350) 25200064 IBIS 6 / 7739
83
 (OMIM) Hyperexcitability Rare [IBIS] 0.3% (n=350) 25200064 IBIS 2 / 7739
84
 (OMIM) Febrile illness Rare [IBIS] 0.3% (n=350) 25200064 IBIS 2 / 7739
85
 (HPO:0002885) Medulloblastoma Rare [IBIS] 0.3% (n=350) 25200064 IBIS 20 / 7739
86
 (HPO:0001249) Intellectual disability Rare [IBIS] 0.3% (n=350) 25200064 IBIS 1089 / 7739
87
 (HPO:0001663) Ventricular fibrillation Rare [IBIS] 0.3% (n=350) 25200064 IBIS 35 / 7739
88
 (HPO:0011675) Arrhythmia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 226 / 7739
89
 (HPO:0003551) Difficulty climbing stairs Rare [IBIS] 0.3% (n=350) 25200064 IBIS 23 / 7739
90
 (HPO:0002829) Arthralgia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 79 / 7739
91
 (MedDRA:10051093) Cardiopulmonary failure Rare [IBIS] 0.3% (n=350) 25200064 IBIS 1 / 7739
92
 (HPO:0002300) Mutism Rare [IBIS] 0.3% (n=350) 25200064 IBIS 28 / 7739
93
 (HPO:0000486) Strabismus Rare [IBIS] 0.3% (n=350) 25200064 IBIS 576 / 7739
94
 (HPO:0005543) Reduced protein C activity Rare [IBIS] 0.3% (n=350) 25200064 IBIS 4 / 7739
95
 (HPO:0010307) Stridor Rare [IBIS] 0.3% (n=350) 25200064 IBIS 19 / 7739
96
 (HPO:0001257) Spasticity Rare [IBIS] 0.3% (n=350) 25200064 IBIS 251 / 7739
97
 (HPO:0002169) Clonus Rare [IBIS] 0.3% (n=350) 25200064 IBIS 37 / 7739
98
 (HPO:0002478) Progressive spastic quadriplegia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 7 / 7739
99
 (HPO:0002415) Leukodystrophy Rare [IBIS] 0.3% (n=350) 25200064 IBIS 30 / 7739
100
 (HPO:0001644) Dilated cardiomyopathy Rare [IBIS] 0.3% (n=350) 25200064 IBIS 141 / 7739
101
 (HPO:0001712) Left ventricular hypertrophy Rare [IBIS] 0.3% (n=350) 25200064 IBIS 76 / 7739
102
 (HPO:0012734) Ketotic hypoglycemia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 3 / 7739
103
 (HPO:0002301) Hemiplegia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 42 / 7739
104
 (HPO:0002329) Drowsiness Rare [IBIS] 0.3% (n=350) 25200064 IBIS 19 / 7739
105
 (HPO:0000969) Edema Rare [IBIS] 0.3% (n=350) 25200064 IBIS 117 / 7739
106
 (HPO:0002500) Abnormality of the cerebral white matter Rare [IBIS] 0.3% (n=350) 25200064 IBIS 73 / 7739
107
 (HPO:0001273) Abnormality of the corpus callosum Rare [IBIS] 0.3% (n=350) 25200064 IBIS 20 / 7739
108
 (HPO:0001946) Ketosis Rare [IBIS] 0.3% (n=350) 25200064 IBIS 17 / 7739
109
 (HPO:0030050) Narcolepsy Rare [IBIS] 0.3% (n=350) 25200064 IBIS 6 / 7739
110
 (HPO:0002524) Cataplexy Rare [IBIS] 0.3% (n=350) 25200064 IBIS 8 / 7739
111
 (HPO:0001262) Somnolence Rare [IBIS] 0.3% (n=350) 25200064 IBIS 20 / 7739
112
 (HPO:0001958) Nonketotic hypoglycemia Rare [IBIS] 0.3% (n=350) 25200064 IBIS 4 / 7739
113
 (HPO:0001288) Gait disturbance Rare [IBIS] 0.3% (n=350) 25200064 IBIS 318 / 7739
114
 (HPO:0005943) Respiratory arrest Rare [IBIS] 0.3% (n=350) 25200064 IBIS 5 / 7739
115
 (HPO:0006543) Cardiorespiratory arrest Rare [IBIS] 0.3% (n=350) 25200064 IBIS 11 / 7739
116
 (HPO:0000078) Abnormality of the genital system 11420420 IBIS 33 / 7739
117
 (HPO:0000113) Polycystic kidney dysplasia 17912479 IBIS 75 / 7739
118
 (HPO:0000260) Wide anterior fontanel 11420420 IBIS 55 / 7739
119
 (HPO:0000348) High forehead 11420420 IBIS 157 / 7739
120
 (HPO:0001252) Muscular hypotonia 6862997 IBIS 990 / 7739
121
 (HPO:0001397) Hepatic steatosis 17912479 IBIS 75 / 7739
122
 (HPO:0001999) Abnormal facial shape 11420420 IBIS 169 / 7739
123
 (HPO:0002089) Pulmonary hypoplasia 11746129 IBIS 80 / 7739
124
 (HPO:0003490) Defective dehydrogenation of isovaleryl CoA and butyryl CoA 11746129 IBIS 1 / 7739
125
 (OMIM) Neonatal acidosis 17912479 IBIS 1 / 7739
126
 (HPO:0003811) Neonatal death 17912479 IBIS 44 / 7739
127
 (HPO:0001640) Cardiomegaly 17912479 IBIS 81 / 7739
128
 (HPO:0000107) Renal cyst 11746129 IBIS 126 / 7739
129
 (HPO:0001290) Generalized hypotonia 25200064 IBIS 51 / 7739
130
 (HPO:0000091) Abnormality of the renal tubule 17912479 IBIS 15 / 7739
131
 (HPO:0001919) Acute kidney injury 22041377 IBIS 21 / 7739