1
|
(HPO:0000969)
|
Edema |
Very frequent [IBIS]
|
|
17873122
|
IBIS
|
117 / 7739
|
2
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
|
17873122; 21189481
|
IBIS
|
137 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [IBIS]
|
|
17873122; 21189481
|
IBIS
|
990 / 7739
|
4
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
|
17873122
|
IBIS
|
116 / 7739
|
5
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [IBIS]
|
|
17873122
|
IBIS
|
50 / 7739
|
6
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
Very frequent [IBIS]
|
|
17873122; 21189481
|
IBIS
|
34 / 7739
|
7
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
Very frequent [IBIS]
|
|
17873122; 21189481
|
IBIS
|
35 / 7739
|
8
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
Very frequent [IBIS]
|
|
17873122; 21189481
|
IBIS
|
22 / 7739
|
9
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
Very frequent [IBIS]
|
|
17873122; 21189481
|
IBIS
|
31 / 7739
|
10
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
Very frequent [IBIS]
|
|
17873122
|
IBIS
|
10 / 7739
|
11
|
(HPO:0000091)
|
Abnormality of the renal tubule |
|
|
17873122
|
IBIS
|
15 / 7739
|
12
|
(HPO:0000252)
|
Microcephaly |
|
|
21189481
|
IBIS
|
832 / 7739
|
13
|
(HPO:0000278)
|
Retrognathia |
|
|
21189481
|
IBIS
|
100 / 7739
|
14
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
21189481
|
IBIS
|
163 / 7739
|
15
|
(HPO:0000369)
|
Low-set ears |
|
|
21189481
|
IBIS
|
372 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
|
|
21189481
|
IBIS
|
1245 / 7739
|
17
|
(HPO:0001510)
|
Growth delay |
|
|
21189481
|
IBIS
|
295 / 7739
|
18
|
(HPO:0001541)
|
Ascites |
|
|
17873122
|
IBIS
|
94 / 7739
|
19
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
21189481
|
IBIS
|
81 / 7739
|
20
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
21189481
|
IBIS
|
161 / 7739
|
21
|
(HPO:0002151)
|
Increased serum lactate |
|
|
21189481
|
IBIS
|
92 / 7739
|
22
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
21189481
|
IBIS
|
32 / 7739
|
23
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
21189481
|
IBIS
|
54 / 7739
|
24
|
(HPO:0005989)
|
Redundant neck skin |
|
|
21189481
|
IBIS
|
40 / 7739
|
25
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
21189481
|
IBIS
|
77 / 7739
|
26
|
(HPO:0012448)
|
Delayed myelination |
|
|
21189481
|
IBIS
|
51 / 7739
|
27
|
(OMIM)
|
Tubulopathy (1 family) |
|
|
17873122
|
IBIS
|
1 / 7739
|
28
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
17873122
|
IBIS
|
482 / 7739
|
29
|
(OMIM)
|
Metabolic acidosis, severe |
|
|
21189481
|
IBIS
|
2 / 7739
|
30
|
(OMIM)
|
Increased serum ammonia |
|
|
17873122
|
IBIS
|
5 / 7739
|
31
|
(OMIM)
|
Skeletal muscle shows decreased activities of mitochondrial respiratory complexes I, III, IV, and V |
|
|
17873122
|
IBIS
|
1 / 7739
|
32
|
(HPO:0001522)
|
Death in infancy |
|
|
17873122
|
IBIS
|
275 / 7739
|
33
|
(HPO:0003811)
|
Neonatal death |
|
|
17873122
|
IBIS
|
44 / 7739
|
34
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
17873122
|
IBIS
|
101 / 7739
|
35
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
21189481
|
IBIS
|
51 / 7739
|
36
|
(HPO:0000664)
|
Synophrys |
|
|
21189481
|
IBIS
|
112 / 7739
|
37
|
(HPO:0000047)
|
Hypospadias |
|
|
21189481
|
IBIS
|
250 / 7739
|
38
|
(OMIM)
|
Edema, nonpitting |
|
|
21189481
|
IBIS
|
3 / 7739
|
39
|
(HPO:0002374)
|
Diminished movement |
|
|
21189481
|
IBIS
|
1 / 7739
|
40
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
21189481
|
IBIS
|
109 / 7739
|
41
|
(OMIM)
|
Dilatation of the 3rd ventricle (in one family) |
|
|
21189481
|
IBIS
|
2 / 7739
|
42
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
21189481
|
IBIS
|
253 / 7739
|
43
|
(HPO:0100309)
|
Subdural hemorrhage |
|
|
21189481
|
IBIS
|
3 / 7739
|
44
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
21189481
|
IBIS
|
19 / 7739
|
45
|
(HPO:0000816)
|
Abnormality of Krebs cycle metabolism |
|
|
21189481
|
IBIS
|
3 / 7739
|
46
|
(HPO:0002015)
|
Dysphagia |
|
|
21189481
|
IBIS
|
301 / 7739
|
47
|
(HPO:0001508)
|
Failure to thrive |
|
|
21189481
|
IBIS
|
454 / 7739
|
48
|
(MedDRA:10048978)
|
Gastrostomy |
|
|
21189481
|
IBIS
|
1 / 7739
|
49
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
|
|
21189481
|
IBIS
|
21 / 7739
|
50
|
(HPO:0011195)
|
EEG with focal sharp slow waves |
|
|
21189481
|
IBIS
|
1 / 7739
|