Symptom Information: Sort according to HPO 

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