|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
7
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
11
|
(HPO:0000124)
|
Renal tubular dysfunction |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
12
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
13
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
14
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
15
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
16
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
17
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
18
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0001947)
|
Renal tubular acidosis |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
|
|
|
|
11 / 7739
|
|
21
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
22
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
23
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
24
|
(HPO:0002686)
|
Prenatal maternal abnormality |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
26
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
27
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
28
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
29
|
(HPO:0007335)
|
Recurrent encephalopathy |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0008279)
|
Transient hyperlipidemia |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
32
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
33
|
(OMIM)
|
Muscle weakness is not a feature |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
36
|
(OMIM)
|
Acute fatty liver in pregnancy (fetus with carnitine palmitoyltransferase I (CPT1) deficiency) |
|
|
|
|
1 / 7739
|
|
37
|
(MedDRA:10049058)
|
HELLP syndrome |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Mild to moderate hyperammonemia |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
No dicarboxylic aciduria |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
No ketonuria |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Normal to elevated total plasma carnitine |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Elevated free carnitine |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Carnitine palmitoyltransferase I deficiency (fibroblast, liver, leukocytes) |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Decreased CPT1 activity |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Decreased long-chain fatty acid oxidation |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
47
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|