|
1
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
4
|
(HPO:0001640)
|
Cardiomegaly |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
5
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
6
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
8
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0000073)
|
Ureteral duplication |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
12
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
14
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
15
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
16
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
17
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
18
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
19
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
21
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
23
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
24
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
25
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
26
|
(HPO:0001403)
|
Macrovesicular hepatic steatosis |
|
|
|
|
7 / 7739
|
|
27
|
(HPO:0001562)
|
Oligohydramnios |
Occasional [HPO:probinson]
|
|
|
|
75 / 7739
|
|
28
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
29
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
30
|
(HPO:0001800)
|
Hypoplastic toenails |
|
|
|
|
74 / 7739
|
|
31
|
(HPO:0001958)
|
Nonketotic hypoglycemia |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
33
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
34
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
35
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
36
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
37
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Very frequent [Orphanet]
|
|
11389301
|
IBIS
|
158 / 7739
|
|
38
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
39
|
(HPO:0003455)
|
Elevated long chain fatty acids |
|
|
|
|
8 / 7739
|
|
40
|
(HPO:0003573)
|
Increased total bilirubin |
|
|
|
|
10 / 7739
|
|
41
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
42
|
(HPO:0006559)
|
Hepatic calcification |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0006561)
|
Lipid accumulation in hepatocytes |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
45
|
(HPO:0006799)
|
Basal ganglia cysts |
|
|
|
|
6 / 7739
|
|
46
|
(HPO:0007023)
|
Antenatal intracerebral hemorrhage |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0007229)
|
Intracerebral periventricular calcifications |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0008293)
|
Long-chain dicarboxylic aciduria |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0008315)
|
Decreased plasma free carnitine |
|
|
|
|
2 / 7739
|
|
50
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
51
|
(HPO:0009058)
|
Increased muscle lipid content |
|
|
|
|
6 / 7739
|
|
52
|
(HPO:0010511)
|
Long toe |
|
|
|
|
9 / 7739
|
|
53
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
54
|
(HPO:0011309)
|
Tapered toe |
|
|
|
|
2 / 7739
|
|
55
|
(HPO:0011936)
|
Decreased plasma total carnitine |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
High, sloping forehead |
|
|
|
|
2 / 7739
|
|
57
|
(OMIM)
|
Cararacts |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Thickened myocardium |
|
|
|
|
2 / 7739
|
|
59
|
(OMIM)
|
Lipid accumulation in heart |
|
|
|
|
1 / 7739
|
|
60
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
61
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
62
|
(OMIM)
|
Dysplastic renal parenchyma |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Lipid accumulation in kidney, especially in proximal convoluted tubules |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Long, tapering fingers |
|
|
|
|
2 / 7739
|
|
65
|
(OMIM)
|
Extra digital creases in digits 2-4 |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Long, tapering toes |
|
|
|
|
1 / 7739
|
|
67
|
(HPO:0002269)
|
Abnormality of neuronal migration |
|
|
|
|
10 / 7739
|
|
68
|
(OMIM)
|
Paraventricular cysts |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Oligohydramnios in some cases |
|
|
|
|
1 / 7739
|
|
70
|
(OMIM)
|
Increased plasma long-chain acylcarnitines |
|
|
|
|
1 / 7739
|
|
71
|
(OMIM)
|
Increased tissue long-chain acylcarnitines |
|
|
|
|
1 / 7739
|
|
72
|
(OMIM)
|
Decreased plasma total and free carnitine |
|
|
|
|
1 / 7739
|
|
73
|
(OMIM)
|
Decreased tissue total and free carnitine |
|
|
|
|
1 / 7739
|
|
74
|
(OMIM)
|
Increased tissue long-chain fatty acids |
|
|
|
|
1 / 7739
|
|
75
|
(OMIM)
|
Increased tissue levels of triglycerides |
|
|
|
|
1 / 7739
|
|
76
|
(OMIM)
|
Increased tissue levels of free fatty acids |
|
|
|
|
1 / 7739
|
|
77
|
(OMIM)
|
Severely decreased palmitate oxidation |
|
|
|
|
1 / 7739
|
|
78
|
(OMIM)
|
Severely decreased carnitine palmitoyltransferase II (CPT II) activity (less than 10% of normal) in multiple tissues |
|
|
|
|
1 / 7739
|
|
79
|
(OMIM)
|
Absence of CPT II protein |
|
|
|
|
1 / 7739
|
|
80
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
81
|
(HPO:0000107)
|
Renal cyst |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
82
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
83
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
84
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
85
|
(HPO:0045016)
|
Elevated serum long-chain fatty acids |
|
|
|
|
1 / 7739
|